About: Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)

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About: Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) Goto Sponge NotDistinct Permalink

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scientific article published on 01 June 2000

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2000 (uk) im Juni 2000 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunu de 2000 (ast) scientific article published on 01 June 2000 (en)
publication date	wds:Q73912656-161A7EFD-B30A-43BB-A5A1-EB621BECE87E
publication date	2000-06-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q73912656-1A1D34F4-F54A-4E6B-8FE3-8D5359613B3F wds:Q73912656-765B353E-0F8C-4D50-9A87-27531E2DD56B wds:Q73912656-77148F38-7E35-4C18-B076-C8E1C182269B wds:Q73912656-CD1EAEEF-94D7-4B2C-A1B5-3B8D7CF07D5E wds:Q73912656-F3EDD9F5-2C9E-4A43-9C2F-E07D720B4E23
author name string	Mercier B Carre A Cledes J Ferec C Perrichot R
rdfs:label	Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (en) Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (nl)
skos:prefLabel	Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (en) Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (nl)
name	Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (en) Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (nl)
title	wds:Q73912656-DBBB1EE9-C33C-4541-A037-A3BE320F5CF7
title	Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (en)
page(s)	wds:Q73912656-1D9A2F83-76FA-4666-8929-C0BBB0B53FEA
page(s)	582
instance of	wds:Q73912656-E1AEBF62-1207-422A-A53F-4B6A736E20CC
instance of	scholarly article
main subject	wds:Q73912656-93CCBB1A-244E-4A5C-879F-4DF4C9FFD243 wds:Q73912656-9D79FC97-CAF7-4F83-AC4A-4AD95F35AD1E wds:Q73912656-9F924A2D-6271-48B6-A1B0-B560E43EC98C
main subject	autosomal dominant polycystic kidney autosomal dominant polycystic kidney disease polycystic kidney disease 1
PubMed ID	wds:Q73912656-FBDE2712-0015-4709-B078-077CE91C1065
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10862097
PubMed ID	10862097
published in	wds:Q73912656-3259C0EF-B8FD-4E31-82FA-CE83F365C2BB
published in	Human Mutation
issue	wds:Q73912656-07D7177D-0889-4F57-A226-9E893C00B566
volume	wds:Q73912656-FBF85C73-66A3-4B07-B703-02BB78AB061E
issue	6
volume	15
DOI	wds:Q73912656-8200C1B8-A2DF-4100-AD99-67C1627BC231
DOI	http://dx.doi.org/10.1002/1098-1004(200006)15:6%3C582::AID-HUMU20%3E3.0.CO;2-B
DOI	10.1002/1098-1004(200006)15:6<582::AID-HUMU20>3.0.CO;2-B
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73912656
is cites work of	Structural model of the TRPP2/PKD1 C-terminal coiled-coil complex produced by a combined computational and experimental approach. 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 Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).
is cites work of	wds:Q33494204-1A6FB801-7358-4EFB-9729-9A3952C626A4 wds:Q37005478-72A61883-3852-4023-AD2E-3B86B17E268D wds:Q33232319-E4025DD9-78E6-4950-AE2C-4AD83D0F6DCC wds:Q45714648-E5BBDF2E-655D-47CA-9DE6-EE437D911960 wds:Q35064292-6DD3C71C-F24C-49E6-ABB9-AC27A2AB53CE wds:Q51746593-72E68681-AFFE-4CDE-BFAD-298567B107DA

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