Cystathionine β-synthase mutations in homocystinuria

Human Mutation

Volumn 13, Issue 5, 1999, Pages 362-375

  Kraus, Jan P ^a   Janosǐk, Miroslav ^b   Kožich, Viktor ^b   Mandell, Roseann ^c   Shih, Vivian ^c   Sperandeo, M P ^d   Sebastio, Gianfranco ^d   De Franchis, Raffaella ^d   Andria, Generoso ^d   Kluijtmans, Leo A J ^e   Blom, Henk ^e   Boers, Godfried H J ^e   Gordon, Ross B ^f   Kamoun, Pierre ^g   Tsai, Michael Y ^h   Kruger, Warren D ⁱ   Koch, Hans G ^j   Ohura, Toshihiro ^k   Gaustadnes, Mette ^l  

^a University of Colorado Denver and Children s Hospital Colorado   (United States)

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

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

ⁱ FOX CHASE CANCER CENTER   (United States)

^j UNIVERSITY OF MÜNSTER   (Germany)

^k TOHOKU UNIVERSITY   (Japan)

^l AARHUS UNIVERSITY HOSPITAL   (Denmark)

more..

Author keywords

CBS; Cystathionine synthase; Homocysteine; Homocystinuria; Inborn error

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; METHIONINE;

ALLELE; ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HOMOCYSTINURIA; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

CPG ISLANDS; CYSTATHIONINE BETA-SYNTHASE; GENOTYPE; HOMOCYSTINURIA; HUMANS; METABOLISM, INBORN ERRORS; MODELS, GENETIC; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0032915831     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K     Document Type: Article

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