Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Nature Genetics

Volumn 23, Issue 2, 1999, Pages 208-212

  Nowak, Kristen J ^a,b   Wattanasirichaigoon, Duangrurdee ^c   Goebel, Hans H ^d   Wilce, Matthew ^a   Pelin, Katarina ^e   Donner, Kati ^e   Jacob, Rebecca L ^f   Hübner, Christoph ^g   Oexle, Konrad ^g   Anderson, Janice R ^h   Verity, Christopher M ^h   North, Kathryn N ⁱ   Iannaccone, Susan T ^j   Müller, Clemens R ^k   Nürnberg, Peter ^g   Muntoni, Francesco ^l   Sewry, Caroline ^l   Hughes, Imelda ^m   Sutphen, Rebecca ⁿ   Lacson, Atilano G ⁿ   Swoboda, Kathryn J ^c   Vigneron, Jaqueline ^o   Wallgren Pettersson, Carina ^e   Beggs, Alan H ^c   Laing, Nigel G ^a   more..

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MURDOCH UNIVERSITY   (Australia)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e UNIVERSITY OF HELSINKI   (Finland)

^f ROYAL PERTH HOSPITAL   (Australia)

^g HUMBOLDT UNIVERSITY   (Germany)

^h ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁱ CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^j UNIVERSITY OF TEXAS AT DALLAS   (United States)

^k UNIVERSITY OF WÜRZBURG   (Germany)

^l HAMMERSMITH HOSPITAL   (United Kingdom)

^m ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

ⁿ JOHNS HOPKINS ALL CHILDREN S HOSPITAL   (United States)

^o Maternite Regionale Universitaire   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; AMINO ACID; MYOSIN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME MOSAICISM; DNA DETERMINATION; EXON; GENE MUTATION; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; MUSCLE CELL; MYOPATHY; NEMALINE MYOPATHY; PRIORITY JOURNAL; SKELETAL MUSCLE; THIN FILAMENT;

ACTINS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOPATHIES, NEMALINE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032858915     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/13837     Document Type: Article

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