Sequence of CP21A_HUMAN

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Dolzan V.,Stopar-Obreza M.,Zerjav-Tansek M.,Breskvar K.,Krzisnik C.,Battelino T.

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Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.

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Stikkelbroeck N.M.,Hoefsloot L.H.,de Wijs I.J.,Otten B.J.,Hermus A.R.,Sistermans E.A.

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

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Kharrat M.,Tardy V.,M'Rad R.,Maazoul F.,Jemaa L.B.,Refai M.,Morel Y.,Chaabouni H.

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

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Usui T.,Nishisho K.,Kaji M.,Ikuno N.,Yorifuji T.,Yasuda T.,Kuzuya H.,Shimatsu A.

Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

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Barbaro M.,Lajic S.,Baldazzi L.,Balsamo A.,Pirazzoli P.,Cicognani A.,Wedell A.,Cacciari E.

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

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Zeng X.,Witchel S.F.,Dobrowolski S.F.,Moulder P.V.,Jarvik J.W.,Telmer C.A.

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Grigorescu Sido A.,Weber M.M.,Grigorescu Sido P.,Clausmeyer S.,Heinrich U.,Schulze E.

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

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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.

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Menassa R.,Tardy V.,Despert F.,Bouvattier-Morel C.,Brossier J.P.,Cartigny M.,Morel Y.

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

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Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

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Riepe F.G.,Hiort O.,Grotzinger J.,Sippell W.G.,Krone N.,Holterhus P.M.

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

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Tardy V.,Menassa R.,Sulmont V.,Lienhardt-Roussie A.,Lecointre C.,Brauner R.,David M.,Morel Y.

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

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Niceta M.,Bono M.,Fabiano C.,Pojero F.,Niceta F.,Sammarco P.,Corsello G.,Garofalo P.

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p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.

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Functional and structural consequences of nine CYP21A2 mutations ranging from very mild to severe effects.

Int. J. Endocrinol.

2016

4209670-4209670

2016