Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency

Pragna I. Patel; Grazia Isaya

doi:10.1086/321283

Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency

Pragna I. Patel, Grazia Isaya

Pediatric and Adolescent Medicine

Research output: Contribution to journal › Review article › peer-review

107 Scopus citations

Original language	English (US)
Pages (from-to)	15-24
Number of pages	10
Journal	American journal of human genetics
Volume	69
Issue number	1
DOIs	https://doi.org/10.1086/321283
State	Published - 2001

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1086/321283

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@article{40af09c915bb4469b6be896ae140efa7,

title = "Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency",

author = "Patel, {Pragna I.} and Grazia Isaya",

note = "Funding Information: We thank Dr. Chris Pearson for helpful discussions and input, Mehreen Hai and Dan Burgess for comments on the review, and Chris Bauer for assistance with the figures. P.I.P. is supported by a grant from the Muscular Dystrophy Association (MDA), and G.I. is supported by grants from the MDA and from the National Institutes of Health/National Institute on Aging (grant AG15709). ",

year = "2001",

doi = "10.1086/321283",

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number = "1",

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TY - JOUR

T1 - Friedreich ataxia

T2 - From GAA triplet-repeat expansion to frataxin deficiency

AU - Patel, Pragna I.

AU - Isaya, Grazia

N1 - Funding Information: We thank Dr. Chris Pearson for helpful discussions and input, Mehreen Hai and Dan Burgess for comments on the review, and Chris Bauer for assistance with the figures. P.I.P. is supported by a grant from the Muscular Dystrophy Association (MDA), and G.I. is supported by grants from the MDA and from the National Institutes of Health/National Institute on Aging (grant AG15709).

PY - 2001

Y1 - 2001

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U2 - 10.1086/321283

DO - 10.1086/321283

M3 - Review article

C2 - 11391483

AN - SCOPUS:0034969491

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JO - American journal of human genetics

JF - American journal of human genetics

IS - 1

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Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency

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