re: Need web sites on LOCAH-3 Beta Dehydrogenase Deficiency please.
Jul. 12th, 2002   6:55am

 

http://www.emedicine.com/PED/topic1051.htm

1. Simard J, Rheaume E, Sanchez R, Laflamme N, de Launoit Y, Luu-The V, van Seters AP, Gordon RD, Bettendorf M, Heinrich U, et al, Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, Mol Endocrinol 1993 May;7(5):716-28. (PubMed)

2. Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I, A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, Hum Mol Genet 1995 Apr;4(4):745-6. (PubMed)

3. Sanchez R, Rheaume E, Laflamme N, Rosenfield RL, Labrie F, Simard J, Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency, J Clin Endocrinol Metab 1994 Mar;78(3):561-7. (PubMed)

4. Tajima T, Fujieda K, Nakae J, Shinohara N, Yoshimoto M, Baba T, Kino[expletive deleted]a E, Igarashi Y, Oomura T, Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency, Hum Mol Genet 1995 May;4(5):969-71. (PubMed)

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Adrenal%20Hyperplasia%2C%20Congenital%20(General)

Organizations related to Adrenal Hyperplasia, Congenital (General)


3,930 links listed at yahoo

http://google.yahoo.com/bin/query?p=%273+Beta+Dehydrogenase+Deficiency&hc=0&hs=0

 

Jamie
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