A missense mutation in the αb-crystallin chaperone gene causes a desmin-related myopathy

Nature Genetics

Volumn 20, Issue 1, 1998, Pages 92-95

  Vicart, Patrick ^a,b   Caron, Anne ^c   Guicheney, Pascale ^c   Li, Zhenlin ^a,b   Prévost, Marie Christine ^a   Faure, Armelle ^d   Chateau, Danielle ^c   Chapon, Françoise ^e   Tomé, Fernando ^c   Dupret, Jean Marie ^b,f   Paulin, Denise ^a,b   Fardeau, Michel ^c  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d GÉNÉTHON   (France)

^e CHU CÔTE DE NACRE   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; ALPHAB CRYSTALLIN; CHAPERONE; DESMIN; GENE PRODUCT; HEAT SHOCK PROTEIN; UNCLASSIFIED DRUG; CRYSTALLIN; RECOMBINANT PROTEIN;

ALLELE; ARTICLE; CHROMOSOME 11Q; HUMAN; INTERMEDIATE FILAMENT; MISSENSE MUTATION; MOLECULAR CLONING; MYOPATHY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; ANIMAL; CELL LINE; FEMALE; GENETIC LINKAGE; GENETIC MARKER; GENETICS; HAMSTER; IMMUNOELECTRON MICROSCOPY; MALE; METABOLISM; MOLECULAR GENETICS; MUSCLE DISEASE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; ULTRASTRUCTURE;

ANIMALS; BASE SEQUENCE; CELL LINE; CLONING, MOLECULAR; CRICETINAE; CRYSTALLINS; DESMIN; FEMALE; GENETIC MARKERS; HEAT-SHOCK PROTEINS; HUMANS; LOD SCORE; MALE; MICROSCOPY, IMMUNOELECTRON; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECOMBINANT PROTEINS;

EID: 17344361902     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1765     Document Type: Article

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