Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Annals of Neurology

Volumn 69, Issue 1, 2011, Pages 206-211

  Foley, A Reghan ^a,b   Hu, Ying ^a   Zou, Yaqun ^a   Yang, Michele ^a,c   Medne, Livija ^a   Leach, Meganne ^a   Conlin, Laura K ^a   Spinner, Nancy ^a   Shaikh, Tamim H ^a,c   Falk, Marni ^a   Neumeyer, Ann M ^d   Bliss, Laurie ^d   Tseng, Brian S ^d   Winder, Thomas L ^e   Bönnemann, Carsten G ^a,f  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Nutrition Obesity Research Center at the University of Colorado   (United States)

^d HARVARD UNIVERSITY   (United States)

^e Prevention Genetics   (United States)

^f NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6;

ALLELE; ARTICLE; BETHLEM MYOPATHY; CHILD; CHROMOSOME 21Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FAMILY; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HAPLOIDY; HETEROZYGOTE; HUMAN; INHERITANCE; MALE; MUSCULAR DYSTROPHY; MYOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

CELLS, CULTURED; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; COLLAGEN TYPE VI; DNA MUTATIONAL ANALYSIS; GENE DELETION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SCLEROSIS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 79551493692     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22283     Document Type: Article

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