A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly

Biochemical and Biophysical Research Communications

Volumn 315, Issue 1, 2004, Pages 219-223

  Shim, Yhong Hee ^a   Bae, Soo Han ^b   Kim, Jai Hyun ^b   Kim, Kyu Rae ^c   Kim, Chong Jai ^d   Paik, Young Ki ^b  

^a Konkuk University   (South Korea)

^b Yonsei University   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

^d Seoul National University   (South Korea)

Author keywords

7 Dehydrocholesterol reductase; Cholesterol biosynthesis; DNA sequence; Enzyme activity; Holoprosencephaly; In vitro mutagenesis; Korean; Mutation; Pathogenesis; PCR SSCP

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; DNA; MUTANT PROTEIN; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CATALYSIS; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; EXON; FETUS; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PREGNANCY TERMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REDUCTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

GENETTA;

EID: 0842329643     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.01.041     Document Type: Article

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