Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene-Reference-Cited by-同舟云学术

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Published:1998-08 Issue:2 Volume:63 Page:329-338
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Waterham Hans R.,Wijburg Frits A.,Hennekam Raoul C.M.,Vreken Peter,Poll-The Bwee Tien,Dorland Lambertus,Duran Marinus,Jira Petr E.,Smeitink Jan A.M.,Wevers Ron A.,Wanders Ronald J.A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient;Alley;Am J Hum Genet,1995

2. Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20)(q32.1;q13.2);Alley;Am J Med Genet,1997

3. Basic local alignment search tool;Altschul;J Mol Biol,1990

4. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism;Cunniff;Am J Med Genet,1997

5. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality;Curry;Am J Med Genet,1987

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