Spectrum of Δ7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

Human Molecular Genetics

Volumn 9, Issue 9, 2000, Pages 1385-1391

  Yu, Hongwei ^a   Lee, Mi Hye ^a   Starck, Lena ^b   Elias, Ellen R ^c   Irons, Mira ^c   Salen, Gerald ^d,e   Patel, Shailendra B ^a   Tint, G Stephen ^d,e  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b SACHS CHILDREN S HOSPITAL   (Sweden)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; DNA; OXIDOREDUCTASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, GENETIC; MUTATION; MUTATION, MISSENSE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0034702085     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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