Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: A possible role for gene conversion

Human Mutation

Volumn 28, Issue 3, 2007, Pages 255-264

  Vyletal, Petr ^a   Sokolová, Jitka ^a   Cooper, David N ^b   Kraus, Jan P ^c   Krawczak, Michael ^d   Pepe, Guglielmina ^e   Rickards, Olga ^f   Koch, Hans G ^g   Linnebank, Michael ^g,h   Kluijtmans, Leo A J ⁱ   Blom, Henk J ⁱ   Boers, Godfried H J ⁱ   Gaustadnes, Mette ^j   Skovby, Flemming ^k   Wilcken, Bridget ^l   Wilcken, David E L ^m   Andria, Generoso ⁿ   Sebastio, Gianfranco ⁿ   Naughten, Eileen R ^o   Yap, Sufin ^o   Ohura, Toshihiro ^p   Pronicka, Ewa ^q   Laszlo, Aranka ^r   Kožich, Viktor ^a   more..

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c Children's Hospital Colorado   (United States)

^d UNIVERSITY OF KIEL   (Germany)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

^g UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^h UNIVERSITY HOSPITAL BONN   (Germany)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j AARHUS UNIVERSITY HOSPITAL   (Denmark)

^k Rigshospitalet   (Denmark)

^l CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^m PRINCE OF WALES HOSPITAL   (Australia)

ⁿ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^o CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^p TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^q CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^r UNIVERSITY OF SZEGED   (Hungary)

more..

Author keywords

CBS; Cystathionine beta synthase; Gene conversion; Haplotype; Homocysteine; Homocystinuria; Pyridoxal 5 phosphate

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

AFRICA; ALLELE; ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; EUROPE; GENE CONVERSION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POPULATION; PRIORITY JOURNAL; WILD TYPE;

AFRICA; BASE SEQUENCE; CYSTATHIONINE BETA-SYNTHASE; EUROPE; GENE CONVERSION; GENE FREQUENCY; GENETIC SCREENING; HAPLOTYPES; HOMOCYSTINURIA; HUMANS; MOLECULAR SEQUENCE DATA; VARIATION (GENETICS);

EID: 33847229436     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20430     Document Type: Article

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