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2. Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. Kuribayashi I; Nomoto S; Massa G; Oostdijk W; Wit JM; Wolffenbuttel BH; Shizuta Y; Honke K Horm Res; 2005; 63(6):284-93. PubMed ID: 16024935 [TBL] [Abstract][Full Text] [Related]
3. Classic steroid 11 beta-hydroxylase deficiency caused by a C-->G transversion in exon 7 of CYP11B1. Yang LX; Toda K; Miyahara K; Nomoto S; Kinoshita E; Baba T; Yoshimoto M; Araki K; Kurashige T; Hashimoto K Biochem Biophys Res Commun; 1995 Nov; 216(2):723-8. PubMed ID: 7488170 [TBL] [Abstract][Full Text] [Related]
4. A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia. Kuribayashi I; Massa G; van den Tooren-de Groot HK; Oostdijk W; Wit JM; Shizuta Y Endocr Res; 2003 Nov; 29(4):377-81. PubMed ID: 14682466 [TBL] [Abstract][Full Text] [Related]
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14. Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase). Ezquieta B; Luzuriaga C Clin Genet; 2004 Sep; 66(3):229-35. PubMed ID: 15324322 [TBL] [Abstract][Full Text] [Related]
15. Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia. Hampf M; Dao NT; Hoan NT; Bernhardt R J Clin Endocrinol Metab; 2001 Sep; 86(9):4445-52. PubMed ID: 11549691 [TBL] [Abstract][Full Text] [Related]
16. Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran. Rösler A; White PC J Steroid Biochem Mol Biol; 1993 Apr; 45(1-3):99-106. PubMed ID: 8481357 [TBL] [Abstract][Full Text] [Related]
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20. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Curnow KM; Slutsker L; Vitek J; Cole T; Speiser PW; New MI; White PC; Pascoe L Proc Natl Acad Sci U S A; 1993 May; 90(10):4552-6. PubMed ID: 8506298 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]