C283Y mutation and other C-terminal nucleotide changes in the γ- sarcoglycan gene in the Bulgarian Gypsy population

Human Mutation

Volumn 14, Issue 1, 1999, Pages 40-44

  Todorova, Albena ^a,c   Ashikov, Angel ^a   Beltcheva, Olga ^a   Tournev, Ivailo ^b   Kremensky, Ivo ^a  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

Author keywords

LGMD2C; Limb girdle muscular dystrophy type 2C; SGCG; SSCP method

Indexed keywords

ASPARAGINE; SARCOGLYCAN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DISEASE CARRIER; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; GENE DELETION; GENE LOCATION; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM; STRUCTURE ACTIVITY RELATION;

BASE SEQUENCE; BULGARIA; CHROMOSOMES, HUMAN, PAIR 13; CYTOSKELETAL PROTEINS; GYPSIES; HETEROZYGOTE; HUMANS; MEMBRANE GLYCOPROTEINS; MUSCULAR DYSTROPHIES; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SARCOGLYCANS;

EID: 0033039928     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R     Document Type: Article

References (7)

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