Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Nature Genetics

Volumn 14, Issue 2, 1996, Pages 191-194

  Odermatt, A ^a   Taschner, P E M ^a   Khanna, V K ^a   Busch, H F M ^a   Karpati, G ^a   Jablecki, C K ^a   Breuning, M H ^a   MacLennan, D H ^a  

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CALCIUM TRANSPORT; CASE REPORT; CHROMOSOME 16P; ENZYME SYNTHESIS; FAST MUSCLE; GENE LOCATION; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; MYOPATHY; PATHOGENESIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SARCOPLASMIC RETICULUM;

CALCIUM-TRANSPORTING ATPASES; CHILD; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; INTRONS; MALE; MUSCLE FIBERS, FAST-TWITCH; MUSCULAR DISEASES; MUTATION; POINT MUTATION; RNA SPLICING; SARCOPLASMIC RETICULUM; SEQUENCE DELETION;

EID: 0029819294     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1096-191     Document Type: Article

References (0)