Title: | Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy |
Journal : | Human mutation, 27, 9 |
Authors: | Lehtokari VL ; Pelin K ; Sandbacka M ; Ranta S ; Donner K ; Muntoni F ; Sewry C ; Angelini C ; Bushby K ; van den Bergh P ; Iannaccone S ; Laing NG ; Wallgren-Pettersson C |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p 946 |
Languages: | English |
Keywords : | actin ; genetic mutations ; Jews ; molecular genetics ; NEB gene ; nemaline myopathy type 2 ; tropomyosin |
Pubmed / DOI : | Pubmed : 16917880 / DOI : 10.1002/humu.20370 |