A common nonsense mutation results in α-actinin-3 deficiency in the general population [1]

Nature Genetics

Volumn 21, Issue 4, 1999, Pages 353-354

  North, K N ^a   Yang, N ^a   Wattanasirichaigoon, D ^a   Mills, M ^a   Easteal, S ^a   Beggs, A H ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTININ;

AMINO ACID SEQUENCE; LETTER; MULTIGENE FAMILY; NEUROMUSCULAR DISEASE; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THIN FILAMENT;

ACTININ; BLOTTING, WESTERN; CODON, NONSENSE; CODON, TERMINATOR; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; GENE FREQUENCY; GENETICS, POPULATION; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE DISEQUILIBRIUM; MALE; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; NEUROMUSCULAR DISEASES; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0032948848     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/7675     Document Type: Letter

References (12)