Barry Rich to Mutation
This is a "connection" page, showing publications Barry Rich has written about Mutation.
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An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome. Mol Genet Metab. 2007 Dec; 92(4):359-63.
Score: 0.035
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A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002 Jun; 87(6):2556-63.
Score: 0.024
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Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. Horm Res. 1998; 49(2):98-102.
Score: 0.018
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Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3802-6.
Score: 0.016
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Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002 Jun; 87(6):2611-22.
Score: 0.006