Protein name:
Alpha-galactosidase A ;
Alternative:
Alpha-D-galactoside galactohydrolase ;Alpha-D-galactosidase A ;Melibiase ;
Organism:
Human (Homo sapiens).
General Annotation
Subcellular Location:
Lysosome
Protein Attributes:
50:
MQLRNPELHL | GCALALRFLA | LVSWDIPGAR | ALDNGLARTP | TMGWLHWERF |
100:
MCNLDCQEEP | DSCISEKLFM | EMAELMVSEG | WKDAGYEYLC | IDDCWMAPQR |
150:
DSEGRLQADP | QRFPHGIRQL | ANYVHSKGLK | LGIYADVGNK | TCAGFPGSFG |
200:
YYDIDAQTFA | DWGVDLLKFD | GCYCDSLENL | ADGYKHMSLA | LNRTGRSIVY |
250:
SCEWPLYMWP | FQKPNYTEIR | QYCNHWRNFA | DIDDSWKSIK | SILDWTSFNQ |
300:
ERIVDVAGPG | GWNDPDMLVI | GNFGLSWNQQ | VTQMALWAIM | AAPLFMSNDL |
350:
RHISPQAKAL | LQDKDVIAIN | QDPLGKQGYQ | LRQGDNFEVW | ERPLSGLAWA |
400:
VAMINRQEIG | GPRSYTIAVA | SLGKGVACNP | ACFITQLLPV | KRKLGFYEWT |
429:
SRLRSHINPT | GTVLLQLENT | MQMSLKDLL
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Mouse
ELISA Kit for Human Alpha-galactosidase A
ELISA Kit for Human Alpha-galactosidase A
CLIA Kit for Human Alpha-galactosidase A
CLIA Kit for Human Alpha-galactosidase A
Polyclonal Antibody for Human Alpha-galactosidase A
Polyclonal Antibody for Human Alpha-galactosidase A
Monoclonal Antibody for Human Alpha-galactosidase A
Monoclonal Antibody for Human Alpha-galactosidase A
Protein for Human Alpha-galactosidase A
Protein for Human Alpha-galactosidase A
R&D Technical Data
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Precision
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Recovery
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Linearity
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA]
tissue :
Fibroblast .
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
tissue :
Lymphoblast .
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.
"The DNA sequence of the human X chromosome."
Ross M.T.
,
Grafham D.V.
,
Coffey A.J.
,
Scherer S.
,
McLay K.
,
Muzny D.
,
Platzer M.
,
Howell G.R.
,
Burrows C.
,
Bird C.P.
,
Frankish A.
,
Lovell F.L.
,
Howe K.L.
,
Ashurst J.L.
,
Fulton R.S.
,
Sudbrak R.
,
Wen G.
,
Jones M.C.
,
Hurles M.E.
,
Andrews T.D.
,
Scott C.E.
,
Searle S.
,
Ramser J.
,
Whittaker A.
,
Deadman R.
,
Carter N.P.
,
Hunt S.E.
,
Chen R.
,
Cree A.
,
Gunaratne P.
,
Havlak P.
,
Hodgson A.
,
Metzker M.L.
,
Richards S.
,
Scott G.
,
Steffen D.
,
Sodergren E.
,
Wheeler D.A.
,
Worley K.C.
,
Ainscough R.
,
Ambrose K.D.
,
Ansari-Lari M.A.
,
Aradhya S.
,
Ashwell R.I.
,
Babbage A.K.
,
Bagguley C.L.
,
Ballabio A.
,
Banerjee R.
,
Barker G.E.
,
Barlow K.F.
,
Barrett I.P.
,
Bates K.N.
,
Beare D.M.
,
Beasley H.
,
Beasley O.
,
Beck A.
,
Bethel G.
,
Blechschmidt K.
,
Brady N.
,
Bray-Allen S.
,
Bridgeman A.M.
,
Brown A.J.
,
Brown M.J.
,
Bonnin D.
,
Bruford E.A.
,
Buhay C.
,
Burch P.
,
Burford D.
,
Burgess J.
,
Burrill W.
,
Burton J.
,
Bye J.M.
,
Carder C.
,
Carrel L.
,
Chako J.
,
Chapman J.C.
,
Chavez D.
,
Chen E.
,
Chen G.
,
Chen Y.
,
Chen Z.
,
Chinault C.
,
Ciccodicola A.
,
Clark S.Y.
,
Clarke G.
,
Clee C.M.
,
Clegg S.
,
Clerc-Blankenburg K.
,
Clifford K.
,
Cobley V.
,
Cole C.G.
,
Conquer J.S.
,
Corby N.
,
Connor R.E.
,
David R.
,
Davies J.
,
Davis C.
,
Davis J.
,
Delgado O.
,
Deshazo D.
,
Dhami P.
,
Ding Y.
,
Dinh H.
,
Dodsworth S.
,
Draper H.
,
Dugan-Rocha S.
,
Dunham A.
,
Dunn M.
,
Durbin K.J.
,
Dutta I.
,
Eades T.
,
Ellwood M.
,
Emery-Cohen A.
,
Errington H.
,
Evans K.L.
,
Faulkner L.
,
Francis F.
,
Frankland J.
,
Fraser A.E.
,
Galgoczy P.
,
Gilbert J.
,
Gill R.
,
Gloeckner G.
,
Gregory S.G.
,
Gribble S.
,
Griffiths C.
,
Grocock R.
,
Gu Y.
,
Gwilliam R.
,
Hamilton C.
,
Hart E.A.
,
Hawes A.
,
Heath P.D.
,
Heitmann K.
,
Hennig S.
,
Hernandez J.
,
Hinzmann B.
,
Ho S.
,
Hoffs M.
,
Howden P.J.
,
Huckle E.J.
,
Hume J.
,
Hunt P.J.
,
Hunt A.R.
,
Isherwood J.
,
Jacob L.
,
Johnson D.
,
Jones S.
,
de Jong P.J.
,
Joseph S.S.
,
Keenan S.
,
Kelly S.
,
Kershaw J.K.
,
Khan Z.
,
Kioschis P.
,
Klages S.
,
Knights A.J.
,
Kosiura A.
,
Kovar-Smith C.
,
Laird G.K.
,
Langford C.
,
Lawlor S.
,
Leversha M.
,
Lewis L.
,
Liu W.
,
Lloyd C.
,
Lloyd D.M.
,
Loulseged H.
,
Loveland J.E.
,
Lovell J.D.
,
Lozado R.
,
Lu J.
,
Lyne R.
,
Ma J.
,
Maheshwari M.
,
Matthews L.H.
,
McDowall J.
,
McLaren S.
,
McMurray A.
,
Meidl P.
,
Meitinger T.
,
Milne S.
,
Miner G.
,
Mistry S.L.
,
Morgan M.
,
Morris S.
,
Mueller I.
,
Mullikin J.C.
,
Nguyen N.
,
Nordsiek G.
,
Nyakatura G.
,
O'dell C.N.
,
Okwuonu G.
,
Palmer S.
,
Pandian R.
,
Parker D.
,
Parrish J.
,
Pasternak S.
,
Patel D.
,
Pearce A.V.
,
Pearson D.M.
,
Pelan S.E.
,
Perez L.
,
Porter K.M.
,
Ramsey Y.
,
Reichwald K.
,
Rhodes S.
,
Ridler K.A.
,
Schlessinger D.
,
Schueler M.G.
,
Sehra H.K.
,
Shaw-Smith C.
,
Shen H.
,
Sheridan E.M.
,
Shownkeen R.
,
Skuce C.D.
,
Smith M.L.
,
Sotheran E.C.
,
Steingruber H.E.
,
Steward C.A.
,
Storey R.
,
Swann R.M.
,
Swarbreck D.
,
Tabor P.E.
,
Taudien S.
,
Taylor T.
,
Teague B.
,
Thomas K.
,
Thorpe A.
,
Timms K.
,
Tracey A.
,
Trevanion S.
,
Tromans A.C.
,
d'Urso M.
,
Verduzco D.
,
Villasana D.
,
Waldron L.
,
Wall M.
,
Wang Q.
,
Warren J.
,
Warry G.L.
,
Wei X.
,
West A.
,
Whitehead S.L.
,
Whiteley M.N.
,
Wilkinson J.E.
,
Willey D.L.
,
Williams G.
,
Williams L.
,
Williamson A.
,
Williamson H.
,
Wilming L.
,
Woodmansey R.L.
,
Wray P.W.
,
Yen J.
,
Zhang J.
,
Zhou J.
,
Zoghbi H.
,
Zorilla S.
,
Buck D.
,
Reinhardt R.
,
Poustka A.
,
Rosenthal A.
,
Lehrach H.
,
Meindl A.
,
Minx P.J.
,
Hillier L.W.
,
Willard H.F.
,
Wilson R.K.
,
Waterston R.H.
,
Rice C.M.
,
Vaudin M.
,
Coulson A.
,
Nelson D.L.
,
Weinstock G.
,
Sulston J.E.
,
Durbin R.M.
,
Hubbard T.
,
Gibbs R.A.
,
Beck S.
,
Rogers J.
,
Bentley D.R.
more...
Nature434:325-337(2005)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue :
Uterus .
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 27-429;PARTIAL PROTEIN SEQUENCE
tissue :
Lung .
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : RNA EDITING OF POSITION 396
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-215
tissue :
Liver .
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : X-RAY CRYSTALLOGRAPHY (3.45 ANGSTROMS) OF 32-422 IN COMPLEX WITH PRODUCT;HOMODIMERIZATION;GLYCOSYLATION AT ASN-139; ASN-192 AND ASN-215
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW ON FD VARIANTS
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD SER-40
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD VAL-296
16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD GLN-301
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD TRP-356
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD GLN-66; CYS-112; GLU-279; GLN-301 AND ARG-328
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD SER-34; GLY-56; ARG-162; GLN-227; VAL-264; VAL-266; PHE-297; TYR-313; ALA-328 AND ARG-404 DEL
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD SER-34; SER-215; ALA-269; LYS-327 AND ARG-361
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD ARG-35; LEU-49; VAL-165 AND GLU-316
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD GLN-66; CYS-112; VAL-156; VAL-166; ALA-260; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328 AND SER-373
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD TYR-142; VAL-156 AND VAL-166
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD PRO-32; SER-34; ASP-85; THR-156 AND GLN-301
26.
"An atypical variant of Fabry's disease in men with left ventricular hypertrophy."
Nakao S.
,
Takenaka T.
,
Maeda M.
,
Kodama C.
,
Tanaka A.
,
Tahara M.
,
Yoshida A.
,
Kuriyama M.
,
Hayashibe H.
,
Sakuraba H.
,
Tanaka H.
N. Engl. J. Med.333:288-293(1995)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD PRO-20 AND ILE-296
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD GLN-301
28.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD VAL-42; SER-49; TYR-56; HIS-92; GLY-93; THR-205; CYS-236; GLY-287; HIS-298 AND ARG-340
29.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD PHE-383 DEL
30.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD ARG-52; CYS-162; ARG-265 AND 316-VAL--ASP-322 DEL
31.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD ARG-52; GLU-128; THR-205; THR-284; LYS-298 AND GLU-358 DEL
32.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD ASN-231
33.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD PRO-20; SER-40; GLN-66; VAL-72; CYS-112; TYR-142; VAL-156; VAL-166; ASN-242; ALA-260; ASP-261; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328; GLU-358 DEL AND SER-373
34.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD VAL-31; 45-ARG-SER-46; ARG-46; CYS-86; PRO-89; THR-91; TYR-92; TYR-94; VAL-97; THR-100; LEU-113; SER-134; ARG-138; THR-143; ARG-148; VAL-163; VAL-170; TYR-202; 205-PRO--TYR-207 DEL; ASP-216; SER-263; CYS-287; SER-298 AND ARG-404 DEL
35.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD THR-65
36.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD LYS-358
37.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD VAL-72
38.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD SER-40; SER-215; ASP-224; TYR-313 AND TRP-THR-SER-247 INS
39.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD TRP-202; GLY-223; ASP-224; GLN-301 AND LYS-327
40.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD LYS-341
41.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : CHARACTERIZATION OF VARIANTS FD GLU-279 AND GLN-301
42.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD VAL-42; CYS-112; ARG-142; ARG-148; VAL-165; ASP-183; SER-215; CYS-235; LEU-236; HIS-244; LEU-259; ILE-267; PHE-289; GLU-321; GLU-358 DEL AND TYR-378
43.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD ASN-266
44.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD LEU-40; SER-95; CYS-112; HIS-112; ASN-148; ARG-172; VAL-187; SER-224; ARG-226; GLN-227; THR-230; HIS-266; GLN-301 AND TYR-320
45.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD ASP-373
46.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD TYR-46; GLY-47; PRO-49; SER-94; SER-95; CYS-112; SER-113; THR-143; SER-215; ARG-258; ARG-259; ILE-267; HIS-279; HIS-280; HIS-298; TYR-313; HIS-363; ASP-377; ALA-409 AND THR-409
47.
"Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course."
Branton M.H.
,
Schiffmann R.
,
Sabnis S.G.
,
Murray G.J.
,
Quirk J.M.
,
Altarescu G.
,
Goldfarb L.
,
Brady R.O.
,
Balow J.E.
,
Austin H.A. III
,
Kopp J.B.
Medicine (Baltimore)81:122-138(2002)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD PRO-143
48.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD ALA-410
49.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : CHARACTERIZATION OF VARIANT FD THR-65
50.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD SER-272
51.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD VAL-31; LEU-42; ARG-43; ASN-93; CYS-112; HIS-112; SER-112; SER-134; VAL-135; ASP-171; PHE-201; SER-215; GLU-234; ASP-261; TYR-264; VAL-264; GLY-276; PRO-285; PHE-300; ALA-328; VAL-328; LYS-338; ALA-358; GLU-358 DEL; ARG-404 DEL AND SER-414
52.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT FD THR-143
53.
"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)."
Hwu W.L.
,
Chien Y.H.
,
Lee N.C.
,
Chiang S.C.
,
Dobrovolny R.
,
Huang A.C.
,
Yeh H.Y.
,
Chao M.C.
,
Lin S.J.
,
Kitagawa T.
,
Desnick R.J.
,
Hsu L.W.
Hum. Mutat.30:1397-1405(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS FD 12-CYS--LEU-14 DEL; PRO-46; GLN-66; ASN-93; VAL-120; THR-219; GLN-356 AND CYS-360;CHARACTERIZATION OF VARIANTS FD 12-CYS--LEU-14 DEL; PRO-46; GLN-66; ASN-93; VAL-120; THR-219; GLN-356 AND CYS-360