Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 96, Issue 5, 1999, Pages 2305-2310

  Pelin, Katarina ^a   Hilpelä, Pirta ^a   Donner, Kati ^a   Sewry, Caroline ^b   Akkari, Patrick A ^c   Wilton, Stephen D ^c   Wattanasirichaigoon, Duangrurdee ^d   Bang, Marie Louise ^e   Centner, Thomas ^e   Hanefeld, Folker ^f   Odent, Sylvie ^g   Fardeau, Michel ^h   Urtizberea, J Andoni ^h   Muntoni, Francesco ^b   Dubowitz, Victor ^b   Beggs, Alan H ^d   Laing, Nigel G ^c   Labeit, Siegfried ^e   De La Chapelle, Albert ^a,i   Wallgren Pettersson, Carina ^a,j  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^f UNIVERSITY OF GÖTTINGEN   (Germany)

^g RENNES UNIVERSITY HOSPITAL   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ OHIO STATE UNIVERSITY   (United States)

^j FOLKHÄLSAN RESEARCH CENTER   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN; NEBULIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 2Q; CLINICAL ARTICLE; FEMALE; GENE CONTROL; GENE EXPRESSION; GENE ISOLATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; HUMAN; IMMUNOFLUORESCENCE; MALE; NEMALINE MYOPATHY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE; THIN FILAMENT;

AUSTRALIA; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CODON, TERMINATOR; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKERS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 13044312720     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.96.5.2305     Document Type: Article

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