Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome-Reference-Cited by-同舟云学术

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Published:1998-07 Issue:1 Volume:63 Page:55-62
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wassif Christopher A.,Maslen Cheryl,Kachilele-Linjewile Stivelia,Lin Don,Linck Leesa M.,Connor William E.,Steiner Robert D.,Porter Forbes D.

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

3. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs;Altschul;Nucleic Acids Res,1997

4. Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1);Berry;Am J Med Genet,1989

5. Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome;Bialer;Am J Med Genet,1987

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