C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: Prevalence study and carrier screening in a high-risk community

Clinical Genetics

Volumn 66, Issue 5, 2004, Pages 467-472

  Georgieva, Bilyana Georgieva ^a,b   Todorova, A ^a   Tournev, I ^a   Mitev, V ^b   Kremensky, I ^a  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

Author keywords

Bulgarian Gypsies; C283Y mutation; Carrier screening; LGMD2C; Limb girdle muscular dystrophy type 2C

Indexed keywords

CYSTEINE; SARCOGLYCAN; TYROSINE;

ARTICLE; BLOOD SAMPLING; BULGARIA; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEALTH CARE SYSTEM; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; HUMAN CELL; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; NEWBORN; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; VOLUNTEER;

BULGARIA; FEMALE; GENETIC SCREENING; GENETICS, POPULATION; GYPSIES; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; SARCOGLYCANS;

EID: 7244253117     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00335.x     Document Type: Article

References (9)

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