Povezave med fenotipom in genotipom pri slovenskih bolnikih s kongenitalno adenalno hiperplazijo; Genotype phenotype correlation in Slovenian patients with congenital adrenal hyperplasia

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Povezave med fenotipom in genotipom pri slovenskih bolnikih s kongenitalno adenalno hiperplazijo = Genotype phenotype correlation in Slovenian patients with congenital adrenal hyperplasia

Stopar, Mirjam ...

Frequencies of CYP21 gene mutations in Slovenian patients with congenital adrenal hyperplasia are presented and briefly compared to those of other European nations. Clinical relevance of molecular ... diagnosis for improvement ofthe treatment and the final outcome in addition to the possibility of prenatal diagnosis renders genotyping an essential part of routine tertiary medical care.

Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 7, suppl. 1, 2000, str. 142-144)

Type of material - conference contribution

Publish date - 2000

Language - slovenian

COBISS.SI-ID - 11343065

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Topics
Adrenal hyperplasia, congenital | Genetics | Child | Polymerase chain reaction | Point mutation

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source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 7, suppl. 1, 2000, str. 142-144)

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Year	Impact factor		Edition		Category		Classification
Year	JCR	SNIP	JCR	SNIP	JCR	SNIP	JCR	SNIP

Links to authors' personal bibliographies	Links to information on researchers in the SICRIS system
Stopar, Mirjam	19252
Dolžan, Vita	11711
Žerjav-Tanšek, Mojca	15440
Breskvar, Katja	03079
Kržišnik, Ciril, 1944-2024	02278
Battelino, Tadej	13023

Source: Personal bibliographies and: SICRIS

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