Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia | Zendy

Vita Dolžan | Zendy; J. Sólyom | Zendy; G. Fekete | Zendy; József Kovács | Zendy; V Rakosnikova | Zendy; Felix Votava | Zendy; Jan Lebl | Zendy; Z. Pribilincová | Zendy; Sabina BaumgartnerParzer | Zendy; Stefan Riedl | Zendy; Franz Waldhauser | Zendy; H Frisch | Zendy; M Stopar-Obreza | Zendy; Ciril Kržišnik | Zendy; Tadej Battelino | Zendy

Open Access

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

Author(s) -

Vita Dolžan,

J. Sólyom,

G. Fekete,

József Kovács,

V Rakosnikova,

Felix Votava,

Jan Lebl,

Z. Pribilincová,

Sabina BaumgartnerParzer,

Stefan Riedl,

Franz Waldhauser,

H Frisch,

M Stopar-Obreza,

Ciril Kržišnik,

Tadej Battelino

Publication year - 2005

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje.1.01944

Subject(s) - congenital adrenal hyperplasia , genotyping , genotype , 21 hydroxylase , biology , genetics , allele , newborn screening , point mutation , genotype phenotype distinction , mutation , phenotype , gene , endocrinology , medicine , microbiology and biotechnology

To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detection in Middle European populations.

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