Protein name:
Lysosomal alpha-glucosidase ;
Alternative:
Aglucosidase alfa ;Acid maltase ;
Organism:
Human (Homo sapiens).
General Annotation
Function:
Essential for the degradation of glygogen to glucose in lysosomes.
Subcellular Location:
Lysosome
Lysosome membrane
Protein Attributes:
50:
MGVRHPPCSH | RLLAVCALVS | LATAALLGHI | LLHDFLLVPR | ELSGSSPVLE |
100:
ETHPAHQQGA | SRPGPRDAQA | HPGRPRAVPT | QCDVPPNSRF | DCAPDKAITQ |
150:
EQCEARGCCY | IPAKQGLQGA | QMGQPWCFFP | PSYPSYKLEN | LSSSEMGYTA |
200:
TLTRTTPTFF | PKDILTLRLD | VMMETENRLH | FTIKDPANRR | YEVPLETPHV |
250:
HSRAPSPLYS | VEFSEEPFGV | IVRRQLDGRV | LLNTTVAPLF | FADQFLQLST |
300:
SLPSQYITGL | AEHLSPLMLS | TSWTRITLWN | RDLAPTPGAN | LYGSHPFYLA |
350:
LEDGGSAHGV | FLLNSNAMDV | VLQPSPALSW | RSTGGILDVY | IFLGPEPKSV |
400:
VQQYLDVVGY | PFMPPYWGLG | FHLCRWGYSS | TAITRQVVEN | MTRAHFPLDV |
450:
QWNDLDYMDS | RRDFTFNKDG | FRDFPAMVQE | LHQGGRRYMM | IVDPAISSSG |
500:
PAGSYRPYDE | GLRRGVFITN | ETGQPLIGKV | WPGSTAFPDF | TNPTALAWWE |
550:
DMVAEFHDQV | PFDGMWIDMN | EPSNFIRGSE | DGCPNNELEN | PPYVPGVVGG |
600:
TLQAATICAS | SHQFLSTHYN | LHNLYGLTEA | IASHRALVKA | RGTRPFVISR |
650:
STFAGHGRYA | GHWTGDVWSS | WEQLASSVPE | ILQFNLLGVP | LVGADVCGFL |
700:
GNTSEELCVR | WTQLGAFYPF | MRNHNSLLSL | PQEPYSFSEP | AQQAMRKALT |
750:
LRYALLPHLY | TLFHQAHVAG | ETVARPLFLE | FPKDSSTWTV | DHQLLWGEAL |
800:
LITPVLQAGK | AEVTGYFPLG | TWYDLQTVPV | EALGSLPPPP | AAPREPAIHS |
850:
EGQWVTLPAP | LDTINVHLRA | GYIIPLQGPG | LTTTESRQQP | MALAVALTKG |
900:
GEARGELFWD | DGESLEVLER | GAYTQVIFLA | RNNTIVNELV | RVTSEGAGLQ |
950:
LQKVTVLGVA | TAPQQVLSNG | VPVSNFTYSP | DTKVLDICVS | LLMGEQFLVS |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Mouse
Rat
Bovine
ELISA Kit for Human Lysosomal alpha-glucosidase
ELISA Kit for Human Lysosomal alpha-glucosidase
ELISA Kit for Human Lysosomal alpha-glucosidase
ELISA Kit for Human Lysosomal alpha-glucosidase
CLIA Kit for Human Lysosomal alpha-glucosidase
CLIA Kit for Human Lysosomal alpha-glucosidase
CLIA Kit for Human Lysosomal alpha-glucosidase
CLIA Kit for Human Lysosomal alpha-glucosidase
Polyclonal Antibody for Human Lysosomal alpha-glucosidase
Polyclonal Antibody for Human Lysosomal alpha-glucosidase
Polyclonal Antibody for Human Lysosomal alpha-glucosidase
Polyclonal Antibody for Human Lysosomal alpha-glucosidase
Monoclonal Antibody for Human Lysosomal alpha-glucosidase
Monoclonal Antibody for Human Lysosomal alpha-glucosidase
Monoclonal Antibody for Human Lysosomal alpha-glucosidase
Monoclonal Antibody for Human Lysosomal alpha-glucosidase
Protein for Human Lysosomal alpha-glucosidase
Protein for Human Lysosomal alpha-glucosidase
Protein for Human Lysosomal alpha-glucosidase
Protein for Human Lysosomal alpha-glucosidase
R&D Technical Data
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Precision
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Recovery
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Linearity
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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];PROTEIN SEQUENCE OF 70-89; 123-145; 204-215; 230-249; 332-345; 349-370; 394-409; 480-513; 520-545; 703-719; 726-731 AND 795-803;VARIANTS ARG-199; HIS-223 AND ILE-780
tissue :
Placenta .
tissue :
Testis .
tissue :
Urine .
2.
Reuser A.J.J.
Submitted (1990-06) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SEQUENCE REVISION
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];VARIANT ILE-780
4.
[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];VARIANT ILE-780
5.
"Identification of a novel mutation in the acid alpha glucosidase gene causing juvenile form of Pompe disease in Iranian population."
Ghaffari S.R.
,
Sabokbar T.
,
Tahmasebi S.
,
Dastan J.
Submitted (2006-08) to the EMBL/GenBank/DDBJ databases
[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];VARIANT GSD2 LEU-457;VARIANTS ARG-199; HIS-223 AND ILE-780
6.
"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C.
,
Garber M.
,
Adams D.J.
,
Sharpe T.
,
Harrow J.
,
Lupski J.R.
,
Nicholson C.
,
Searle S.M.
,
Wilming L.
,
Young S.K.
,
Abouelleil A.
,
Allen N.R.
,
Bi W.
,
Bloom T.
,
Borowsky M.L.
,
Bugalter B.E.
,
Butler J.
,
Chang J.L.
,
Chen C.-K.
,
Cook A.
,
Corum B.
,
Cuomo C.A.
,
de Jong P.J.
,
DeCaprio D.
,
Dewar K.
,
FitzGerald M.
,
Gilbert J.
,
Gibson R.
,
Gnerre S.
,
Goldstein S.
,
Grafham D.V.
,
Grocock R.
,
Hafez N.
,
Hagopian D.S.
,
Hart E.
,
Norman C.H.
,
Humphray S.
,
Jaffe D.B.
,
Jones M.
,
Kamal M.
,
Khodiyar V.K.
,
LaButti K.
,
Laird G.
,
Lehoczky J.
,
Liu X.
,
Lokyitsang T.
,
Loveland J.
,
Lui A.
,
Macdonald P.
,
Major J.E.
,
Matthews L.
,
Mauceli E.
,
McCarroll S.A.
,
Mihalev A.H.
,
Mudge J.
,
Nguyen C.
,
Nicol R.
,
O'Leary S.B.
,
Osoegawa K.
,
Schwartz D.C.
,
Shaw-Smith C.
,
Stankiewicz P.
,
Steward C.
,
Swarbreck D.
,
Venkataraman V.
,
Whittaker C.A.
,
Yang X.
,
Zimmer A.R.
,
Bradley A.
,
Hubbard T.
,
Birren B.W.
,
Rogers J.
,
Lander E.S.
,
Nusbaum C.
more...
Nature440:1045-1049(2006)
[
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]
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 [LARGE SCALE MRNA]
tissue :
Duodenum .
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 [MRNA] OF 631-680;VARIANT GSD2 HIS-645
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : MUTAGENESIS OF TRP-516 AND ASP-518;ACTIVE SITE
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 AT ASN-140; ASN-233; ASN-390; ASN-470; ASN-652; ASN-882 AND ASN-925
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : GLYCOSYLATION AT ASN-470
12.
[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 VARIANTS
13.
[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-390
tissue :
Plasma .
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
tissue :
Placenta .
15.
[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-140; ASN-470; ASN-882 AND ASN-925
tissue :
Liver .
16.
[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]
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 ASN-91
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 THR-318
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 LYS-521
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 GSD2 ARG-643 AND TRP-725
21.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 GLU-645;VARIANTS ILE-816 AND ILE-927
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 GLU-645;VARIANTS ILE-816 AND ILE-927
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 ILE-816 AND ILE-927
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 VAL-519
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 TRP-647
26.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 LEU-545
27.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2 ARG-299 AND LYS-903 DEL;VARIANTS ARG-199; HIS-223 AND ILE-780
28.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT LYS-689
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 GSD2 VAL-529
30.
"Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype."
Huie M.L.
,
Tsujino S.
,
Brooks S.S.
,
Engel A.
,
Elias E.
,
Bonthron D.T.
,
Bessley C.
,
Shanske S.
,
Dimauro S.
,
Goto Y.
,
Hirschhorn R.
Biochem. Biophys. Res. Commun.244:921-927(1998)
[
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 GSD2 ASN-645; TRP-647; SER-648; GLN-672 AND TRP-672
31.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 ARG-309
32.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2 PRO-566; ARG-643 AND ARG-768;VARIANTS ASN-91; ARG-199 AND HIS-223
33.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 GLY-VAL-PRO-VAL-SER-ASN-925 INS
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 GSD2 LEU-545 AND TRP-638
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 GSD2 ARG-481
36.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2;VARIANTS
37.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2 PRO-208; LEU-308; LEU-324; MET-585; 607-GLY--HIS-612 DEL; ARG-643 AND THR-672
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 GSD2 ARG-219; LYS-262 AND VAL-408
39.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 TRP-224;CHARACTERIZATION OF VARIANT GSD2 TRP-224
40.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2 LEU-361 AND CYS-437
41.
"New GAA mutations in Japanese patients with GSDII (Pompe disease)."
Pipo J.R.
,
Feng J.-H.
,
Yamamoto T.
,
Ohsaki Y.
,
Nanba E.
,
Tsujino S.
,
Sakuragawa N.
,
Martiniuk F.
,
Ninomiya H.
,
Oka A.
,
Ohno K.
Pediatr. Neurol.29:284-287(2003)
[
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 GSD2 TRP-224; CYS-600; ARG-619 AND HIS-660;CHARACTERIZATION OF VARIANTS GSD2 TRP-224; ARG-619 AND HIS-660;CHARACTERIZATION OF VARIANT SER-576
42.
"Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II."
Hermans M.M.P.
,
van Leenen D.
,
Kroos M.A.
,
Beesley C.E.
,
Van der Ploeg A.T.
,
Sakuraba H.
,
Wevers R.
,
Kleijer W.J.
,
Michelakakis H.
,
Kirk E.P.
,
Fletcher J.
,
Bosshard N.
,
Basel-Vanagaite L.
,
Besley G.
,
Reuser A.J.J.
Hum. Mutat.23:47-56(2004)
[
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 GSD2 GLY-103; ARG-219; ARG-285; CYS-292; ARG-293; PRO-308; ARG-312; PRO-355; ARG-374; PRO-405; PHE-455; ASP-459 DEL; ARG-478; ARG-481; THR-519; LEU-545; ARG-549; PRO-552; SER-575; LYS-579; CYS-600; ASP-607 AND ASP-880;CHARACTERIZATION OF VARIANTS
43.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2 PRO-355 AND CYS-702;CHARACTERIZATION OF VARIANTS GSD2 PRO-355 AND CYS-702
44.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 GLN-901;VARIANT ASN-645
45.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS GSD2 VAL-237 AND ARG-293
46.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 GLY-330
47.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT GSD2 GLY-ASN-404
48.
"Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II."
Montalvo A.L.
,
Bembi B.
,
Donnarumma M.
,
Filocamo M.
,
Parenti G.
,
Rossi M.
,
Merlini L.
,
Buratti E.
,
De Filippi P.
,
Dardis A.
,
Stroppiano M.
,
Ciana G.
,
Pittis M.G.
Hum. Mutat.27:999-1006(2006)
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PubMed ]
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Europe PMC ]
[
Abstract ]
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Cited for : VARIANTS GSD2 ARG-309; PRO-355; LEU-361; PRO-445; ASN-489; ARG-549; GLN-612; ARG-643; TRP-672 AND CYS-746
49.
"Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients."
Muller-Felber W.
,
Horvath R.
,
Gempel K.
,
Podskarbi T.
,
Shin Y.
,
Pongratz D.
,
Walter M.C.
,
Baethmann M.
,
Schlotter-Weigel B.
,
Lochmuller H.
,
Schoser B.
Neuromuscul. Disord.17:698-706(2007)
[
PubMed ]
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Europe PMC ]
[
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Cited for : VARIANTS GSD2 PRO-355; ALA-522 AND VAL-610;VARIANT ARG-359
50.
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Cited for : VARIANTS GSD2 HIS-190; SER-285; PHE-291; PRO-291; LYS-318; ARG-335; ARG-347; ARG-482; VAL-483; GLN-521; SER-522; LYS-570; GLN-572; PRO-594; LYS-614; ASN-737; SER-746 AND PRO-935;VARIANT LYS-585
51.
"Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease."
Pittis M.G.
,
Donnarumma M.
,
Montalvo A.L.E.
,
Dominissini S.
,
Kroos M.
,
Rosano C.
,
Stroppiano M.
,
Bianco M.G.
,
Donati M.A.
,
Parenti G.
,
D'Amico A.
,
Ciana G.
,
Di Rocco M.
,
Reuser A.
,
Bembi B.
,
Filocamo M.
Hum. Mutat.29:E27-E36(2008)
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PubMed ]
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Europe PMC ]
[
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Cited for : VARIANTS GSD2 GLY-103; CYS-191; ARG-219; TRP-224; LYS-262; ARG-293; PRO-355; LEU-375; ARG-401; ASN-489; ALA-522; PRO-552; TYR-599; TRP-638; ARG-643 AND ASN-645;CHARACTERIZATION OF VARIANTS GSD2 CYS-191; LEU-375; ARG-401; ALA-522 AND TYR-599
52.
"Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations."
Oba-Shinjo S.M.
,
da Silva R.
,
Andrade F.G.
,
Palmer R.E.
,
Pomponio R.J.
,
Ciociola K.M.
,
Carvalho S.M.
,
Gutierrez P.S.
,
Porta G.
,
Marrone C.D.
,
Munoz V.
,
Grzesiuk A.K.
,
Llerena J.C. Jr.
,
Berditchevsky C.R.
,
Sobreira C.
,
Horovitz D.
,
Hatem T.P.
,
Frota E.R.
,
Pecchini R.
,
Kouyoumdjian J.A.
,
Werneck L.
,
Amado V.M.
,
Camelo J.S. Jr.
,
Mattaliano R.J.
,
Marie S.K.
more...
J. Neurol.256:1881-1890(2009)
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PubMed ]
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Europe PMC ]
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Cited for : VARIANTS GSD2 PRO-46; LEU-217; PRO-486; PRO-594; TYR-612; LYS-635 AND VAL-638
53.
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Cited for : VARIANT GSD2 SER-558
54.
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Cited for : VARIANTS GSD2 PRO-224; LEU-251; LEU-254; LYS-262; SER-266; PRO-291; VAL-408; ARG-478; TYR-525; LEU-545; PHE-557; ARG-615; GLU-645; GLY-746 AND CYS-746;VARIANTS ALA-271 AND ARG-711
55.
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Cited for : VARIANT GSD2 GLY-103;VARIANT ASN-91
56.
"Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants."
Kroos M.
,
Hoogeveen-Westerveld M.
,
Michelakakis H.
,
Pomponio R.
,
Van der Ploeg A.
,
Halley D.
,
Reuser A.
,
Augoustides-Savvopoulou P.
,
Ausems M.
,
Llona J.B.
,
Bautista Lorite J.
,
van der Beek N.
,
Bonafe L.
,
Cuk M.
,
D'Hooghe M.
,
Engelen B.
,
Farouk A.
,
Fumic K.
,
Garcia-Delgado E.
,
Herzog A.
,
Hurst J.
,
Jones S.
,
Kariminejad M.H.
,
Kucukcongar A.
,
Lissens W.
,
Lund A.
,
Majoor-Krakauer D.
,
Kumamoto S.
,
Maravi E.
,
Marie S.
,
Mengel E.
,
Mavridou I.
,
Munteis Olivas E.
,
Najmabadi H.
,
Okumiya T.
,
Peric S.
,
Paschke E.
,
Plecko B.
,
Robberecht W.
,
Serdaroglu P.
,
Shboul M.
,
Tansek M.Z.
,
Tarnutzer A.
,
Stojanovic V.R.
,
Tylki-Szymanska A.
,
Venancio M.
,
Verhoeven K.
more...
Hum. Mutat.33:1161-1165(2012)
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PubMed ]
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Europe PMC ]
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Cited for : VARIANTS HIS-74; HIS-89; LEU-220; MET-222; ASP-290; GLY-310; VAL-391; CYS-458; ASP-611; LEU-629; 700-THR-LEU-701 DEL AND ILE-718;VARIANTS GSD2 ARG-103; GLY-108; PHE-127; GLN-224; ARG-234; LYS-234; ILE-316; GLU-335; LEU-361; LEU-397; VAL-419; HIS-457; TYR-523; SER-558; CYS-575; ARG-576; HIS-594; LEU-601; ALA-602; PRO-627; ASP-648; LEU-702; LYS-743; PRO-819 AND PHE-916
57.
"A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations."
Herzog A.
,
Hartung R.
,
Reuser A.J.
,
Hermanns P.
,
Runz H.
,
Karabul N.
,
Goekce S.
,
Pohlenz J.
,
Kampmann C.
,
Lampe C.
,
Beck M.
,
Mengel E.
Orphanet J. Rare Dis.7:35-35(2012)
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PubMed ]
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Europe PMC ]
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Cited for : VARIANTS GSD2 LYS-234; 431-LEU--GLN-433 DEL; LEU-568; LEU-601; CYS-766 AND ARG-913