Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease | Zendy

Vita Dolžan | Zendy; M Stopar-Obreza | Zendy; Mojca Žerjav-Tanšek | Zendy; Katja Breskvar | Zendy; Ciril Kržišnik | Zendy; Tadej Battelino | Zendy

Open Access

Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease

Author(s) -

Vita Dolžan,

M Stopar-Obreza,

Mojca Žerjav-Tanšek,

Katja Breskvar,

Ciril Kržišnik,

Tadej Battelino

Publication year - 2003

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.0.1490137

Subject(s) - congenital adrenal hyperplasia , biology , genetics , mutation , point mutation , allele , gene , genotype , haplotype , microbiology and biotechnology , gene mutation , genotyping , population , gene conversion , medicine , environmental health

To analyse the mutational spectrum, the associated haplotypes and the genotype-phenotype correlation, and to design a reliable and rational approach for CYP21 mutation detection in Slovenian congenital adrenal hyperplasia (CAH) patients.

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