New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

American Journal of Human Genetics

Volumn 73, Issue 2, 2003, Pages 355-369

  Pan, Te Cheng ^a   Zhang, Rui Zhu ^a   Sudano, Dominick G ^c   Marie, Suely K ^d   Bönnemann, Carsten G ^c   Chu, Mon Li ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; CYSTEINE; MICROSATELLITE DNA;

AMINO ACID SEQUENCE; ARTICLE; BASEMENT MEMBRANE; BETHLEM MYOPATHY; CASE REPORT; CHILD; CLINICAL FEATURE; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; JOINT CONTRACTURE; MALE; MUSCLE CELL; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0041664084     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/377107     Document Type: Article

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