A little cholesterol in time...

Clinical and Investigative Medicine

Volumn 24, Issue 6, 2001, Pages 318-320

  Opitz, John M ^a  

^a FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

Cholesterol; DHCR7; Genes; Hereditary diseases; Mutation; Smith Lemli Opitz syndrome

Indexed keywords

CHOLESTEROL; GENE PRODUCT; PROTEIN DHCR7; UNCLASSIFIED DRUG;

DIET SUPPLEMENTATION; EDITORIAL; EMBRYO DEVELOPMENT; GENE MUTATION; GENOTYPE; HUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

CHOLESTEROL; GENOTYPE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0035700683     PISSN: 0147958X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (8)

1. A newly recognized syndrome of multiple congenital anomalies
2. Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G→C is found in over sixty percent of US propositi
3. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz syndrome
4. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
5. Smith-Lemli-Opitz syndrome in Japan
6. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome
7. Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada
8. Incidence of Smith-Lemli-Opitz syndrome in Slovakia