Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy-Reference-Cited by-同舟云学术

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Published:2008-01 Issue:1 Volume:82 Page:188-193
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ramser Juliane,Ahearn Mary Ellen,Lenski Claus,Yariz Kemal O.,Hellebrand Heide,von Rhein Michael,Clark Robin D.,Schmutzler Rita K.,Lichtner Peter,Hoffman Eric P.,Meindl Alfons,Baumbach-Reardon Lisa

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference21 articles.

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2. Spinal muscular atrophy-clinical and genetic correlations;Zerres;Neuromuscul. Disord.,1997

3. Chaos in classification of the spinal muscular atrophies of childhood;Dubowitz;Neuromuscul. Disord.,1991

4. Congenital deformities;Banker,1994

5. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping;Dressman;Genet. Med.,2007

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