Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

Neuromuscular Disorders

Volumn 22, Issue 2, 2012, Pages 139-148

  Kim, J ^a   Jimenez Mallebrera, C ^a,d   Foley, A R ^a   Fernandez Fuente, M ^b   Brown, S C ^b   Torelli, S ^a   Feng, L ^a   Sewry, C A ^a,c   Muntoni, F ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ROYAL VETERINARY COLLEGE   (United Kingdom)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Bethlem myopathy (BM); Collagen VI; Diagnosis; Flow cytometry; Ullrich congenital muscular dystrophy (UCMD)

Indexed keywords

COLLAGEN TYPE 6;

ADOLESCENT; ADULT; ARTICLE; BETHLEM MYOPATHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FLOW CYTOMETRY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTERMETHOD COMPARISON; MYOPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SKIN FIBROBLAST; ULLRICH CONGENITAL MUSCULAR DYSTROPHY;

ADOLESCENT; ADULT; CHILD; COLLAGEN TYPE VI; FIBROBLASTS; FLOW CYTOMETRY; HUMANS; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION; YOUNG ADULT;

EID: 84856322692     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.08.006     Document Type: Article

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