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Items: 3

1.

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.

Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N.

J Clin Endocrinol Metab. 2006 Dec;91(12):4976-80. Epub 2006 Sep 19.

PMID:
16984992
2.

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.

Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG.

J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. Epub 2006 May 2.

PMID:
16670167
3.

Ion transport coupled to terminal oxidase functioning in the extremely alkaliphilic halotolerant bacterium Thioalkalivibrio.

Grischuk YV, Muntyan MS, Popova IV, Sorokin DY.

Biochemistry (Mosc). 2003 Apr;68(4):385-90.

PMID:
12765519

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