About: Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling

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About: Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling Goto Sponge NotDistinct Permalink

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scientific article published on 01 August 2000

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2000 (uk) im August 2000 veröffentlichter wissenschaftlicher Artikel (de) article scientifique publié en août 2000 (fr) artículu científicu espublizáu n'agostu de 2000 (ast) scientific article published on 01 August 2000 (en)
publication date	wds:Q73102985-B4F2F4F8-74B9-463B-B961-81F2A4E7E63B
publication date	2000-08-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q73102985-2EB9179F-7360-4026-BE75-B766892EEC6D wds:Q73102985-9DEBDF56-B973-40EA-AF3D-6D90BB657C4C wds:Q73102985-ACF52C61-190B-4121-9B04-4A906ADE1FA5 wds:Q73102985-B2E928C9-0317-4515-A1C5-4BCA846D4124
author name string	Gatti R Filocamo M Giona F Mazzotti R
rdfs:label	Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (en) Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (nl)
skos:prefLabel	Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (en) Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (nl)
name	Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (en) Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (nl)
author	wds:Q73102985-0472B6CC-C152-4B5A-A1E7-236B1A7BAEAB
author	Gloria Bonuccelli
title	wds:Q73102985-9CD22424-3FFD-474E-9C60-0A75FF5EEDDE
title	Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling (en)
page(s)	wds:Q73102985-775CF715-8ED1-4388-AEA4-73C44DAE29C9
page(s)	307-311
instance of	wds:Q73102985-D6CA8CBB-A04F-4A4D-A776-08BEFE255247
instance of	scholarly article
PubMed ID	wds:Q73102985-18634A87-65B7-4B21-802C-212A2621E054
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11042032
PubMed ID	11042032
published in	wds:Q73102985-2AF1988E-29EC-41EC-BFF5-E5868616B645
published in	Blood Cells, Molecules and Diseases
issue	wds:Q73102985-BC42C9B1-4161-41A1-93AA-50482A212D29
volume	wds:Q73102985-0ABD406E-9F85-4268-8D7E-35E0FE365169
issue	4
volume	26
DOI	wds:Q73102985-606EBCF5-90C8-4CF6-A306-05009E3CFD6A
DOI	http://dx.doi.org/10.1006/BCMD.2000.0308
DOI	10.1006/BCMD.2000.0308
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73102985
is cites work of	Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships Are patient rights to information and self-determination in diagnostic genetic testing upheld? A comparison of patients' and providers' perceptions Norrbottnian clinical variant of Gaucher disease in Southern Italy MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
is cites work of	wds:Q44218670-F134DACA-1FE6-4EC5-BCA4-F55930FEB354 wds:Q73489118-BCDA0399-C157-406A-8B17-6BB23743BA27 wds:Q40412918-F2ADB50E-28DF-4348-8FA2-5C57AFEF2C42 wds:Q52845998-EBFC1CA1-F485-4008-8C18-8A550C850654 wds:Q33904453-2D6C32BE-9C02-465C-8810-656CA952552C

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