Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria

European Journal of Human Genetics

Volumn 5, Issue 1, 1997, Pages 15-21

  Dawson, Paul A ^a   Cox, Anthony J ^a   Emmerson, Bryan T ^a   Dudman, Nicholas P B ^b   Kraus, Jan P ^c   Gordon, Ross B ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c Children's Hospital Colorado   (United States)

Author keywords

B6 nonresponsive homocystinuria; Cystathionine synthase; Cystathionine synthase genetic variants; Homocystinuria; Mutation analysis

Indexed keywords

COMPLEMENTARY DNA; CYSTATHIONINE BETA SYNTHASE; PYRIDOXINE; SULFUR AMINO ACID;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; ENZYME DEFICIENCY; ESCHERICHIA COLI; EXPRESSION VECTOR; GENE CASSETTE; HOMOCYSTINURIA; HUMAN; HUMAN CELL; LENS LUXATION; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETON MALFORMATION; THROMBOSIS;

BACTERIA (MICROORGANISMS); ESCHERICHIA COLI;

EID: 0030910663     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484726     Document Type: Article

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