Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2303-2309

  Kondo Lida, Eri ^a,d   Kobayashi, Kazuhiro ^a   Watanabe, Masashi ^a   Sasaki, Junko ^a   Kumagai, Toshiyuki ^b   Koide, Hiroyoshi ^c   Saito, Kayoko ^d   Osawa, Makiko ^d   Nakamura, Yusuke ^a   Toda, Tatsushi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b Aichi Welf Ctr Persons Devmtl D   (Japan)

^c Hello Clinic   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

FUKUTIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 9Q; GENE INSERTION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MICROGYRIA; MISSENSE MUTATION; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RETROPOSON; WALKER WARBURG SYNDROME;

BASE SEQUENCE; DNA PRIMERS; GENOTYPE; HUMANS; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; PROTEINS;

EID: 0032723417     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2303     Document Type: Article

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