Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil

Clinical Genetics

Volumn 88, Issue 4, 2015, Pages 391-395

  Chaves, Rigoberto Gadelha ^a,b   da Veiga Pereira, L ^c   de Araujo F T ^c   Rozenberg, R ^c   Carvalho, M D F ^d   Coelho, J C ^e   Michelin Tirelli, K ^e   de Freitas Chaves, M ^f   Cavalcanti, G B ^g  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO NORTE   (Brazil)

^b Municipal Department of Health   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d STATE UNIVERSITY OF CEARÁ   (Brazil)

^e FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^f Fundação Oswaldo Cruz   (Brazil)

^g UFRN CCS Department of Clinical and Toxicological Analysis   (Brazil)

Author keywords

Consanguinity; Founder effect; Gaucher disease; Genetic testing; Mutation

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BRAZIL; CHILD; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GAUCHER DISEASE; GENE MUTATION; GENEALOGY; GENETIC ANALYSIS; GENETIC RISK; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PATIENT CODING; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; DEFICIENCY; GENETIC ASSOCIATION STUDY; GENETICS; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD; VERY ELDERLY;

GLUCOSYLCERAMIDASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; BRAZIL; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GAUCHER DISEASE; GENETIC ASSOCIATION STUDIES; GLUCOSYLCERAMIDASE; HUMANS; MALE; MIDDLE AGED; PEDIGREE;

EID: 84941633312     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12515     Document Type: Article

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