Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast

Molecular Genetics and Metabolism

Volumn 80, Issue 1-2, 2003, Pages 227-233

  Lucas, Marsha E ^a,b   Ma, Qi ^a,b   Cunningham, David ^a   Peters, Jo ^c   Cattanach, Bruce ^c   Bard, Martin ^d   Elmore, Bradley K ^d   Herman, Gail E ^a  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^d INDIANA UNIVERSITY   (United States)

Author keywords

Bare patches; CHILD syndrome; Cholesterol biosynthesis; erg26; Ergosterol synthesis; Nsdhl; X linked

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECT; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC COMPLEMENTATION; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

MURINAE; SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 0142121298     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00137-9     Document Type: Article

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