cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

Human Mutation

Volumn 25, Issue 3, 2005, Pages 239-247

  Zavadáková, Petra ^a   Fowler, Brian ^b   Suormala, Terttu ^b   Novotna, Zorka ^a   Mueller, Peter ^c   Hennermann, Julia B ^d   Zeman, Jiří ^e   Vilaseca, M Antonia ^f   Vilarinho, Laura ^g   Gutsche, Sven ^h   Wilichowski, Ekkehard ⁱ   Horneff, Gerd ^j   Kožich, Viktor ^a  

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

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Department of Pathology   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e CHARLES UNIVERSITY   (Czech Republic)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

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

^h UNIVERSITY OF LÜBECK   (Germany)

ⁱ UNIVERSITY OF GÖTTINGEN   (Germany)

^j MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

more..

Author keywords

cblE; Haplotype; Homocystinuria; Megaloblastic anemia; Methionine synthase reductase, MTRR; Minigene expression; SNP

Indexed keywords

METHIONINE SYNTHASE REDUCTASE;

ALLELE; ARTICLE; BONE MARROW EXAMINATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; EUROPE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOCYSTINURIA; HUMAN; HYPERHOMOCYSTEINEMIA; INFANT; MACROCYTIC ANEMIA; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; WILD TYPE;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; AMINO ACID SUBSTITUTION; BETAINE; BRAIN; CELL LINE, TRANSFORMED; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FERREDOXIN-NADP REDUCTASE; FIBROBLASTS; FOLIC ACID; GENE THERAPY; GENES, SYNTHETIC; GENETIC COMPLEMENTATION TEST; HAPLOTYPES; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; HYDROXOCOBALAMIN; MUTATION, MISSENSE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECOMBINANT FUSION PROTEINS; SEQUENCE DELETION; TRANSFECTION;

EID: 20144385990     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20131     Document Type: Article

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