Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

American Journal of Human Genetics

Volumn 70, Issue 6, 2002, Pages 1446-1458

  Demir, Ercan ^a   Sabatelli, Patrizia ^a   Allamand, Valérie ^a   Ferreiro, Ana ^a   Moghadaszadeh, Behzad ^a   Makrelouf, Mohamed ^a   Topaloglu, Haluk ^a   Echenne, Bernard ^a   Merlini, Luciano ^a   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; ISOPROTEIN; MESSENGER RNA; MICROSATELLITE DNA;

ADULT; AGED; ALPHA CHAIN; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CHROMOSOME 21Q; CHROMOSOME 2Q; CLINICAL ARTICLE; CLINICAL FEATURE; COLLAGEN DEFECT; CONSANGUINITY; DISEASE SEVERITY; EXON; FAMILY STUDY; FEMALE; FIBROBLAST; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRON; MALE; MICROSATELLITE MARKER; MOBILIZATION; MUSCLE BIOPSY; MUSCLE CELL; MUSCULAR DYSTROPHY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FUNCTION; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

EID: 18344393598     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/340608     Document Type: Article

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