About: Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene

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About: Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene Goto Sponge NotDistinct Permalink

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scientific article published on 01 October 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 1996 (uk) article scientifique publié en 1996 (fr) im Oktober 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'ochobre de 1996 (ast) scientific article published on 01 October 1996 (en)
publication date	wds:Q71765371-52207465-F53F-4AA0-9F97-4E4B93F42E8D
publication date	1996-10-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q71765371-06DC5A2C-61B8-4577-8DB6-6296E294FBDE wds:Q71765371-121506EB-E83C-4918-B1A6-943AACA3D070 wds:Q71765371-3A6EBDDD-4EE6-4B52-B233-6DD757D3686C wds:Q71765371-3CBB0B52-A968-48AA-BE0A-EB613DC648B3 wds:Q71765371-3D5476E9-DD0C-49C8-97D8-31D9D4971085 wds:Q71765371-4B7CB4B5-8D12-43CA-8953-0C0FE24A4035 wds:Q71765371-5A75ED69-F2EF-4DFB-A531-4E164027AA2C wds:Q71765371-64F55352-B3FE-431B-BE1F-2892E7F501A3 wds:Q71765371-68E4DF92-6F12-45D1-98A5-10E03BB7B9CB wds:Q71765371-73023091-F124-4A18-9A66-946F3B49DC25 wds:Q71765371-8764CDBB-F529-45BB-A15A-2FF0716D28A7 wds:Q71765371-90730CCD-3B85-4550-9DD4-0AB2F2592EE5 wds:Q71765371-9E9CFC3D-32A0-4C78-A501-814CD02A5357 wds:Q71765371-A7138A7B-175E-44D8-9105-FA43206ECAAC wds:Q71765371-F6085A85-7FC4-4373-B3EC-2ACA5D9ED1DC wds:Q71765371-FD2AD222-AD44-450E-A759-BE33A68D7377
cites work	Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains Polycystic kidney disease: The complete structure of the PKD1 gene and its protein Autosomal dominant polycystic kidney disease Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease Evidence for a third genetic locus for autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23 Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome Genetic Heterogeneity of Polycystic Kidney Disease in Europe1 Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium) Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genes A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families
author name string	wds:Q71765371-0C3625A7-2789-4C54-9366-83BFC8560169 wds:Q71765371-0C7CCB7A-CE7A-4E3C-8723-381479DAC217 wds:Q71765371-1959F1FD-56D8-49F3-A622-933102B3CCA1 wds:Q71765371-279D680A-25BC-49ED-A556-CA388A249E3D wds:Q71765371-5BE5049C-BD9A-44F8-BD52-04B3DD7368D4 wds:Q71765371-6254F89B-7BEA-48E1-B729-F4674B12FAB1 wds:Q71765371-BE0EFEA5-4466-4D97-85FF-3E1E90DD7837 wds:Q71765371-D6A76C12-4929-4EEC-8960-0CE88AC05186
author name string	S Rossetti P F Pignatti G Restagno A Carbonara A E Turco E Bresin O De Prisco S Corrà
rdfs:label	Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (en) Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (nl)
skos:prefLabel	Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (en) Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (nl)
name	Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (en) Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (nl)
title	wds:Q71765371-3E78F8D5-49AD-470C-B418-9A03114B042A
title	Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene (en)
page(s)	wds:Q71765371-245B7D32-635E-4CDC-AABE-10E536E7254F
page(s)	155-159
instance of	wds:Q71765371-6A2D4B7B-B4F9-41C1-BA47-258DE1511911
instance of	scholarly article
main subject	wds:Q71765371-683F42D5-86E1-4BC4-BDCB-76C7204B909C wds:Q71765371-91690D78-06B1-4A49-A098-DC5937F1E49A
main subject	autosomal dominant polycystic kidney autosomal dominant polycystic kidney disease
PubMed ID	wds:Q71765371-741107A0-E4F8-4E17-A5B2-0DC24F4D0B05
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8911610
PubMed ID	8911610
published in	wds:Q71765371-6DFFD841-1DFF-4002-8931-D6B1A5A92E8E
published in	American Journal of Medical Genetics Part A
issue	wds:Q71765371-632B6EE3-8F02-468A-A13D-56495E06D1A1
volume	wds:Q71765371-2AEEA8BF-F227-4F40-9547-1AD3402B5DC0
issue	2
volume	65
DOI	wds:Q71765371-3A575701-E5D8-44B6-A407-F4672C1D6B68
DOI	http://dx.doi.org/10.1002/(SICI)1096-8628(19961016)65:2%3C155::AID-AJMG15%3E3.0.CO;2-P
DOI	10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71765371
is cites work of	A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach Pkd1 unusual DNA conformations are recognized by nucleotide excision repair Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2) Mutation detection in the repeated part of the PKD1 gene The hallmarks of cancer: relevance to the pathogenesis of polycystic kidney disease High Resolution Melt analysis for mutation screening in PKD1 and PKD2. A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2) Mutational analysis within the 3' region of the PKD1 gene in Japanese families

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