About: Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia

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About: Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) article scientifique publié en 2008 (fr) наукова стаття, опублікована у вересні 2009 (uk) im Dezember 2008 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q63439989-F7B82B66-A122-4C08-899F-3C9D3D36348B
publication date	2008-12-17 00:00:00Z (xsd:dateTime)
author name string	wds:Q63439989-66B5A74C-5302-461F-A527-071426469218
author name string	Aurora Rossodivita
rdfs:label	Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (en) Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (nl)
skos:prefLabel	Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (en) Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (nl)
name	Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (en) Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (nl)
author	wds:Q63439989-352D9A14-05F2-415E-A641-26CCF381C460 wds:Q63439989-4BCCB2C5-7AE3-40F1-B4C8-38C27256BD27 wds:Q63439989-628E1AB3-563F-41CC-B51C-61B77559D395 wds:Q63439989-80D4EA64-1C8B-4169-82C5-311DE8B84E7B wds:Q63439989-84B2BFC1-DD97-4824-BB6E-2BEE8A35C9AE wds:Q63439989-9F372FCF-6564-49D4-A4D6-724E58268227 wds:Q63439989-A20EBC16-672F-41B3-A13E-B8ED90BB9808 wds:Q63439989-D271522B-F7E6-4DED-B5A1-10B3B7D845D9
author	Ettore Capoluongo Cecilia Zuppi Enrica Mello Paola Concolino Angelo Minucci Francesca Vendittelli Bruno Giardina Cinzia Carrozza
title	wds:Q63439989-115199A2-B4B3-4137-9766-CAA71CEB1CEC
title	Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia (en)
page(s)	wds:Q63439989-B1EE2926-1B97-40C2-9B5C-D48756712699
page(s)	470-476
instance of	wds:Q63439989-2ED41B01-3215-4D54-B3AF-322EBE21748F
instance of	scholarly article
main subject	wds:Q63439989-EF19209B-7748-46A8-A17E-586F23A7DD34
main subject	congenital adrenal hyperplasia
PubMed ID	wds:Q63439989-0D4E6C50-FCCB-491B-8995-6BFD9E65607A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/19170707
PubMed ID	19170707
published in	wds:Q63439989-C4B44810-51CB-448E-A15F-2AA750116DAD
published in	Clinical Endocrinology
issue	wds:Q63439989-F98B0CAA-D763-4D7C-9003-EFD93B7188C3
volume	wds:Q63439989-87F8D9CE-149C-4111-B452-F778A04602F5
issue	4
volume	71
DOI	wds:Q63439989-9B3169A2-C706-4A7D-9398-6337F617EBE7
DOI	http://dx.doi.org/10.1111/J.1365-2265.2008.03517.X
DOI	10.1111/J.1365-2265.2008.03517.X
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q63439989
is cites work of	Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
is cites work of	wds:Q47788216-76B4710A-527F-49E3-9374-43A17DD5649D wds:Q35086962-9439A3AE-B870-4848-A329-387899568EAD wds:Q49946745-4E21064B-5A85-44EB-8913-DADB90F07852

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