Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa-Reference-Cited by-同舟云学术

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Published:2010-11 Issue:5 Volume:87 Page:643-654
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rajadhyaksha Anjali M.,Elemento Olivier,Puffenberger Erik G.,Schierberl Kathryn C.,Xiang Jenny Z.,Putorti Maria L.,Berciano José,Poulin Chantal,Brais Bernard,Michaelides Michel,Weleber Richard G.,Higgins Joseph J.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa;Higgins;Neurology,1997

2. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32;Higgins;Neurology,1999

3. Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder;Higgins;Mov. Disord.,2000

4. Autosomal recessive posterior column ataxia and retinitis pigmentosa;Berciano;Neurology,1998

5. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study;Polo;Brain,1991

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