Origin and spread of a common deletion causing mucolipidosis type II: Insights from patterns of haplotypic diversity

Clinical Genetics

Volumn 80, Issue 3, 2011, Pages 273-280

  Coutinho, Mf ^a,b   Encarnacao M ^a   Gomes, R ^a   da Silva Santos, L ^a   Martins, S ^c   Sirois Gagnon, D ^d   Bargal, R ^e   Filocamo, M ^f   Raas Rothschild, A ^e   Tappino, B ^f   Laprise, C ^d   Cury, Gk ^g   Schwartz, Iv ^g,h   Artigalas O ^g   Prata, Mj ^b,c   Alves, S ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b Faculty of Engineering of Porto   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^f G GASLINI INSTITUTE   (Italy)

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

^h HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

C.3503 3504delTC; Common origin; Haplotypic analysis; Mucolipidosis

Indexed keywords

LYSOSOME ENZYME; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME; CLINICAL ARTICLE; GENE DELETION; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MICROSATELLITE MARKER; MUCOLIPIDOSIS TYPE 2; PRIORITY JOURNAL;

ARABS; CANADA; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENE FREQUENCY; HAPLOTYPES; HETEROZYGOTE; HISTORY, ANCIENT; HOMOZYGOTE; HUMANS; LATIN AMERICA; MALE; MEDITERRANEAN REGION; MUCOLIPIDOSES; PHYLOGENY; POLYMORPHISM, GENETIC; SEQUENCE DELETION; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS); TURKEY;

EID: 79961115962     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01539.x     Document Type: Article

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