FXN ELISA Kit for Human(Homo sapiens) | EIAab.comFXN ELISA Kit for Human(Homo sapiens)

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FXN (Gene name),

Frataxin, mitochondrial (Protein name ), FRDA_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

FXN(FRDA;X25);

Protein name:

Frataxin, mitochondrial;

Alternative:

Friedreich ataxia protein(Fxn);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular wight aggregates that incoroprate iron. Interacts with LYRM4 AND HSPA9. Interacts with ACO1. Interacts with ISCU isoform 1 and isoform 2. Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer. Interacts with SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate.

Function:

Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.

Subcellular Location:

Cytoplasm Mitochondrion PubMed:18725397 reports localization exclusively in mitochondria.

Protein Attributes:

Sequence length:

210

Sequence:

50:

100:

150:

200:

210:

SSLAYSGKDA |

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.20685

Pfam:

PF01491

KEGG:

hsa:2395

STRING:

9606.ENSP00000366482

MIM:

229300

SMR:

Q16595

String:

Q16595

Uniprot:

Q16595

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ELISA Kit for Human Frataxin, mitochondrial

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E15247r

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ELISA Kit for Human Frataxin, mitochondrial

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E15247h

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96T

ELISA Kit for Human Frataxin, mitochondrial

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E15247b

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96T

ELISA Kit for Human Frataxin, mitochondrial

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E15247m

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96T

CLIA Kit for Human Frataxin, mitochondrial

Cat.:

U15247m

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96T

CLIA Kit for Human Frataxin, mitochondrial

Cat.:

U15247h

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Packing:

96T

CLIA Kit for Human Frataxin, mitochondrial

Cat.:

U15247r

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Packing:

96T

CLIA Kit for Human Frataxin, mitochondrial

Cat.:

U15247b

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96T

Polyclonal Antibody for Human Frataxin, mitochondrial

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P15247Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Frataxin, mitochondrial

Cat.:

P15247Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human Frataxin, mitochondrial

Cat.:

P15247Rb-m

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40ug/0.2ml

Monoclonal Antibody for Human Frataxin, mitochondrial

Protein for Human Frataxin, mitochondrial

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.

"Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion."
Campuzano V. , Montermini L. , Molto M.D. , Pianese L. , Cossee M. , Cavalcanti F. , Monros E. , Rodius F. , Duclos F. , Monticelli A. , Zara F. , Canizares J. , Koutnikova H. , Bidichandani S. , Gellera C. , Brice A. , Trouillas P. , de Michele G. , more...
Science271:1423-1427(1996) [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 [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2);ALTERNATIVE SPLICING;VARIANT PHE-154
2.

"DNA sequence and analysis of human chromosome 9."
Humphray S.J. , Oliver K. , Hunt A.R. , Plumb R.W. , Loveland J.E. , Howe K.L. , Andrews T.D. , Searle S. , Hunt S.E. , Scott C.E. , Jones M.C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Ashwell R.I.S. , Babbage A.K. , Babbage S. , Bagguley C.L. , more...
Nature429:369-374(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
3.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Brain.
tissue: Eye.
4.

"The in vivo mitochondrial two-step maturation of human frataxin."
Schmucker S. , Argentini M. , Carelle-Calmels N. , Martelli A. , Puccio H.
Hum. Mol. Genet.17:3521-3531(2008) [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: PROTEIN SEQUENCE OF 81-90;PROTEOLYTIC PROCESSING;SUBCELLULAR LOCATION;MUTAGENESIS OF 39-ARG-ARG-40; 53-ARG-ARG-54; 78-LEU-ARG-79 AND 79-ARG-LYS-80
5.

"In vivo maturation of human frataxin."
Condo I. , Ventura N. , Malisan F. , Rufini A. , Tomassini B. , Testi R.
Hum. Mol. Genet.16:1534-1540(2007) [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: PROTEIN SEQUENCE OF 81-86;PROTEOLYTIC PROCESSING;MUTAGENESIS OF 53-ARG-ARG-54 AND 79-ARG-LYS-80;TISSUE SPECIFICITY
6.

"Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin."
Condo I. , Malisan F. , Guccini I. , Serio D. , Rufini A. , Testi R.
Hum. Mol. Genet.19:1221-1229(2010) [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: PROTEIN SEQUENCE OF 81-86;FUNCTION;INTERACTION WITH ACO1;SUBCELLULAR LOCATION
7.

Kostrzewa M.
Submitted (1997-06) 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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 89-128;VARIANT FRDA TYR-122
8.

"A novel splice site mutation (384+1G-A) in the Friedreich's ataxia gene."
Doudney J.D. , Pook M.A. , Al-Mahdawi S. , Carvajal J.J. , Hillerman R. , Chamberlain S.
Submitted (1997-11) 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 [GENOMIC DNA] OF 89-128;VARIANT FRDA TYR-122
9.

"Correct sequence in exon 5a of x25: human frataxin (FRDA), F175(TTC)-->Y175(TAC) and W202(TGG)-->S202(TCC)."
Laccone F. , Schloesser M.
Submitted (1997-03) 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 [GENOMIC DNA] OF 162-210
10.

"Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes."
Campuzano V. , Montermini L. , Lutz Y. , Cova L. , Hindelang C. , Jiralerspong S. , Trottier Y. , Kish S.J. , Faucheux B. , Trouillas P. , Authier F.J. , Duerr A. , Mandel J.-L. , Vescovi A. , Pandolfo M. , Koenig M.
Hum. Mol. Genet.6:1771-1780(1997) [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: SUBCELLULAR LOCATION
11.

"Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin."
Koutnikova H. , Campuzano V. , Foury F. , Dolle P. , Cazzalini O. , Koenig M.
Nat. Genet.16:345-351(1997) [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: SUBCELLULAR LOCATION
12.

"Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase."
Gordon D.M. , Shi Q. , Dancis A. , Pain D.
Hum. Mol. Genet.8:2255-2262(1999) [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: PROTEOLYTIC PROCESSING
13.

"Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase."
Branda S.S. , Cavadini P. , Adamec J. , Kalousek F. , Taroni F. , Isaya G.
J. Biol. Chem.274:22763-22769(1999) [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: PROTEOLYTIC PROCESSING
14.

"Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates."
Cavadini P. , Adamec J. , Taroni F. , Gakh O. , Isaya G.
J. Biol. Chem.275:41469-41475(2000) [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: PROTEOLYTIC PROCESSING
15.

"Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia."
Cavadini P. , O'Neill H.A. , Benada O. , Isaya G.
Hum. Mol. Genet.11:217-227(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: POSSIBLE FUNCTION IN IRON STORAGE;SUBUNIT
16.

"Structure of frataxin iron cores: an X-ray absorption spectroscopic study."
Nichol H. , Gakh O. , O'Neill H.A. , Pickering I.J. , Isaya G. , George G.N.
Biochemistry42:5971-5976(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: POSSIBLE FUNCTION IN IRON STORAGE;SUBUNIT
17.

"Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins."
Yoon T. , Cowan J.A.
J. Am. Chem. Soc.125:6078-6084(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: FUNCTION IN IRON-SULFUR CLUSTER BIOSYNTHESIS;INTERACTION WITH ISCU
18.

"Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis."
Yoon T. , Cowan J.A.
J. Biol. Chem.279:25943-25946(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: POSSIBLE FUNCTION IN HEME BIOSYNTHESIS;INTERACTION WITH FECH
19.

"Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity."
Bulteau A.L. , O'Neill H.A. , Kennedy M.C. , Ikeda-Saito M. , Isaya G. , Szweda L.I.
Science305:242-245(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: FUNCTION
20.

"Assembly of human frataxin is a mechanism for detoxifying redox-active iron."
O'Neill H.A. , Gakh O. , Park S. , Cui J. , Mooney S.M. , Sampson M. , Ferreira G.C. , Isaya G.
Biochemistry44:537-545(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: FUNCTION IN OXIDATIVE STRESS;SUBUNIT;CATALYTIC ACTIVITY
21.

"Frataxin interacts functionally with mitochondrial electron transport chain proteins."
Gonzalez-Cabo P. , Vazquez-Manrique R.P. , Garcia-Gimeno M.A. , Sanz P. , Palau F.
Hum. Mol. Genet.14:2091-2098(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: INTERACTION WITH SDHA AND SDHB
22.

"Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells."
Schoenfeld R.A. , Napoli E. , Wong A. , Zhan S. , Reutenauer L. , Morin D. , Buckpitt A.R. , Taroni F. , Lonnerdal B. , Ristow M. , Puccio H. , Cortopassi G.A.
Hum. Mol. Genet.14:3787-3799(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: FUNCTION;INVOLVEMENT IN HEME BIOSYNTHESIS
23.

"Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2."
Acquaviva F. , De Biase I. , Nezi L. , Ruggiero G. , Tatangelo F. , Pisano C. , Monticelli A. , Garbi C. , Acquaviva A.M. , Cocozza S.
J. Cell Sci.118:3917-3924(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: INTERACTION WITH ISCU;SUBCELLULAR LOCATION
24.

"Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region."
O'Neill H.A. , Gakh O. , Isaya G.
J. Mol. Biol.345:433-439(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: SUBUNIT;SUBCELLULAR LOCATION
25.

"A pool of extramitochondrial frataxin that promotes cell survival."
Condo I. , Ventura N. , Malisan F. , Tomassini B. , Testi R.
J. Biol. Chem.281:16750-16756(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: FUNCTION IN CELL SURVIVAL;SUBCELLULAR LOCATION
26.

"Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones."
Shan Y. , Napoli E. , Cortopassi G.
Hum. Mol. Genet.16:929-941(2007) [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: INTERACTION WITH LYRM4 AND HSPA9;CHARACTERIZATION OF VARIANTS PHE-154 AND ARG-155
27.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
28.

"Crystal structure of human frataxin."
Dhe-Paganon S. , Shigeta R. , Chi Y.-I. , Ristow M. , Shoelson S.E.
J. Biol. Chem.275:30753-30756(2000) [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: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 88-210
29.

"Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin."
Musco G. , Stier G. , Kolmerer B. , Adinolfi S. , Martin S. , Frenkiel T. , Gibson T. , Pastore A.
Structure8:695-707(2000) [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: STRUCTURE BY NMR OF 91-210
30.

"Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion."
Bidichandani S.I. , Ashizawa T. , Patel P.I.
Am. J. Hum. Genet.60:1251-1256(1997) [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 FRDA VAL-130 AND PHE-154
31.

"Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies."
Bartolo C. , Mendell J.R. , Prior T.W.
Am. J. Med. Genet.79:396-399(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: VARIANT FRDA SER-106
32.

"The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene."
Forrest S.M. , Knight M. , Delatycki M.B. , Paris D. , Williamson R. , King J. , Yeung L. , Nassif N. , Nicholson G.A.
Neurogenetics1:253-257(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 FRDA VAL-130; CYS-165 AND PHE-182
33.

"Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes."
Cossee M. , Duerr A. , Schmitt M. , Dahl N. , Trouillas P. , Allinson P. , Kostrzewa M. , Nivelon-Chevallier A. , Gustavson K.-H. , Kohlschuetter A. , Mueller U. , Mandel J.-L. , Brice A. , Koenig M. , Cavalcanti F. , Tammaro A. , de Michele G. , Filla A. , more...
Ann. Neurol.45:200-206(1999) [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 FRDA TYR-122 AND VAL-130
34.

"A missense mutation (W155R) in an American patient with Friedreich's ataxia."
Labuda M. , Poirier J. , Pandolfo M.
Hum. Mutat.13:506-506(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FRDA ARG-155
35.

"A novel missense mutation (L198R) in the Friedreich's ataxia gene."
Al-Mahdawi S. , Pook M. , Chamberlain S.
Hum. Mutat.16:95-95(2000) [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 FRDA ARG-198
36.

"The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia."
Calmels N. , Schmucker S. , Wattenhofer-Donze M. , Martelli A. , Vaucamps N. , Reutenauer L. , Messaddeq N. , Bouton C. , Koenig M. , Puccio H.
PLoS ONE4:E6379-E6379(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: CHARACTERIZATION OF VARIANT FRDA PHE-154

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