Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy

Developmental Medicine and Child Neurology

Volumn 39, Issue 11, 1997, Pages 770-774

  Quinlivan, R M ^a   Robb, S A ^b   Sewry, C ^e   Dubowitz, V ^c   Piccolo, F ^e   Kaplan, J C ^d  

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

^b GUY S HOSPITAL   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN; GLYCOPROTEIN; RNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 17Q; DIAGNOSTIC ACCURACY; DNA DETERMINATION; FEMALE; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; UNITED KINGDOM;

EID: 0030687466     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1997.tb07381.x     Document Type: Article

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