Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor-Reference-Cited by-同舟云学术

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Published:2012-12 Issue:6 Volume:91 Page:1095-1102
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rinaldi Carlo,Grunseich Christopher,Sevrioukova Irina F.,Schindler Alice,Horkayne-Szakaly Iren,Lamperti Costanza,Landouré Guida,Kennerson Marina L.,Burnett Barrington G.,Bönnemann Carsten,Biesecker Leslie G.,Ghezzi Daniele,Zeviani Massimo,Fischbeck Kenneth H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease;Skre;Clin. Genet.,1974

2. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease;Pareyson;Lancet Neurol.,2009

3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation;Boerkoel;Ann. Neurol.,2002

4. Connexin mutations in X-linked Charcot-Marie-Tooth disease;Bergoffen;Science,1993

5. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5);Kim;Am. J. Hum. Genet.,2007

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