Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy-Reference-Cited by-同舟云学术

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Published:2006 Issue:9 Volume:27 Page:946-956
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lehtokari Vilma-Lotta,Pelin Katarina,Sandbacka Maria,Ranta Salla,Donner Kati,Muntoni Francesco,Sewry Caroline,Angelini Corrado,Bushby Kate,Van den Bergh Peter,Iannaccone Susan,Laing Nigel G.,Wallgren-Pettersson Carina

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20370/fullpdf

Reference27 articles.

1. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

2. Myopalladin, a Novel 145-Kilodalton Sarcomeric Protein with Multiple Roles in Z-Disc and I-Band Protein Assemblies

3. Molecular Dissection of the Interaction of Desmin with the C-Terminal Region of Nebulin

4. Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

5. Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

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