A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

Neuromuscular Disorders

Volumn 10, Issue 4-5, 2000, Pages 247-250

  Dincer P ^a   Bonnemann C G ^b   Erdir Aker, O ^a   Akcoren Z ^a   Nigro, V ^c   Kunkel, L M ^d   Topaloglu H ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Sarcoglycan; Limb girdle muscular dystrophy; Sarcoglycanopathy

Indexed keywords

DNA;

ARTICLE; EXON; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; CARDIOMYOPATHIES; CODON, NONSENSE; CONSANGUINITY; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MEMBRANE GLYCOPROTEINS; MUSCULAR DYSTROPHIES; MUTATION; SARCOGLYCANS; TURKEY;

EID: 0343570016     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00100-0     Document Type: Article

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