Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes-Reference-Cited by-同舟云学术

Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Published:2013-01 Issue:1 Volume:23 Page:56-65
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kiiski K.,Laari L.,Lehtokari V.-L.,Lunkka-Hytönen M.,Angelini C.,Petty R.,Hackman P.,Wallgren-Pettersson C.,Pelin K.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference24 articles.

1. Report of the 70th ENMC international workshop: nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands;Wallgren-Pettersson;Neuromuscul Disord,2000

2. Nebulin – a giant chameleon;Pelin;Adv Exp Med Biol,2008

3. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Lehtokari;Hum Mutat,2006

4. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy;Pelin;Proc Natl Acad Sci U S A,1999

5. Distal myopathy caused by homozygous missense mutations in the nebulin gene;Wallgren-Pettersson;Brain,2007

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