Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Journal of Medical Genetics

Volumn 42, Issue 2, 2005, Pages 108-120

  Lampe, A K ^a   Dunn, D M ^b   Von Niederhausern, A C ^b   Hamil, C ^b   Aoyagi, A ^b   Laval, S H ^a   Marie, S K ^c   Chu, M L ^d   Swoboda, K ^b   Muntoni, F ^e   Bonnemann, C G ^f   Flanigan, K M ^b   Bushby, K M D ^a   Weiss, R B ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e IMPERIAL COLLEGE LONDON   (United Kingdom)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; GENOMIC DNA;

ANALYTIC METHOD; ARTICLE; AUTOANALYSIS; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BETHLEM MYOPATHY; EXON; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

COLLAGEN TYPE VI; DNA MUTATIONAL ANALYSIS; GENOMICS; HUMANS; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; MUTATION; POLYMORPHISM, GENETIC;

EID: 13444293092     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.023754     Document Type: Article

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