Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis

Saved in:
Bibliographic Details
Published in:American journal of medical genetics 2000-11, Vol.95 (1), p.85-85
Main Authors: Bzd ch, Vladim r, Koz k, Libor, Francov, Hana, Beh lov, Darina
Format: Article
Language:English
Subjects:
Amino Acid Substitution
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Family Health
Female
Fetal Diseases - diagnosis
Fetal Diseases - enzymology
Fetal Diseases - genetics
Gestational Age
Humans
Male
Mutation
Oxidoreductases - genetics
Oxidoreductases Acting on CH-CH Group Donors
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis
Smith-Lemli-Opitz Syndrome - diagnosis
Smith-Lemli-Opitz Syndrome - enzymology
Smith-Lemli-Opitz Syndrome - genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20001106)95:1<85::AID-AJMG18>3.0.CO;2-9