Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method

FEBS Letters

Volumn 431, Issue 2, 1998, Pages 175-179

  Gaustadnes, Mette ^a   Kluijtmans, Leo A J ^b   Jensen, Ole Kudsk ^c   Rasmussen, Karsten ^a   Heil, Sandra G ^b   Kraus, Jan P ^c   Blom, Henk J ^b   Ingerslev, Jørgen ^a   Rüdiger, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Children's Hospital Colorado   (United States)

Author keywords

Cyslathisnine synthase deficiency; Cystathionine synthase; Homocystinuria; Intronic sequence; Mutation analysis

Indexed keywords

CLOZAPINE; COMPLEMENTARY DNA; CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE;

ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; ASTIGMATISM; CASE REPORT; DEEP VEIN THROMBOSIS; ENZYME DEFICIENCY; EXON; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; LUNG EMBOLISM; MALE; MISSENSE MUTATION; MUTATION; MYOPIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOSIS; SEQUENCE ANALYSIS; STOP CODON; STRABISMUS; TECHNIQUE;

ADULT; BASE SEQUENCE; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; FIBROBLASTS; GENE DELETION; GENETIC SCREENING; HOMOCYSTINURIA; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0032540882     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-5793(98)00743-1     Document Type: Article

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