DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

Autor:	Forbes D. Porter, Christopher A. Wassif, F.B. Scalco, Danilo Moretti-Ferreira, Lina S. Correa-Cerro
Rok vydání:	2005
Předmět:	Oxidoreductases Acting on CH-CH Group Donors medicine.medical_specialty Base Sequence business.industry DNA Mutational Analysis DNA medicine.disease Smith-Lemli-Opitz Syndrome Hypocholesterolemia Endocrinology Smith–Lemli–Opitz syndrome Internal medicine Mutation Mutation (genetic algorithm) Genetics medicine Humans business Brazil Genetics (clinical)
Zdroj:	American Journal of Medical Genetics Part A. :278-281
ISSN:	1552-4833 1552-4825
DOI:	10.1002/ajmg.a.30810
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7921fd7caf69343958803738e233b902 https://doi.org/10.1002/ajmg.a.30810 Zobrazit plný text záznamu Plný text