About: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

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About: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 Goto Sponge NotDistinct Permalink

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scientific article (publication date: October 1997)

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rdf:type	Item
description	articolo scientifico (it) artículu científicu espublizáu en 1997 (ast) vědecký článek publikovaný v roce 1997 (cs) 1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած (hyw) vedecký článok (publikovaný 1997-10) (sk) 1997 թվականի հոտեմբերին հրատարակված գիտական հոդված (hy) наукова стаття, опублікована в жовтні 1997 (uk) مقالة علمية (نشرت في أكتوبر 1997) (ar) article scientifique publié en 1997 (fr) wetenschappelijk artikel (gepubliceerd in 1997-10) (nl) scientific article (publication date: October 1997) (en) im Oktober 1997 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q28250958-DF2B1083-F4ED-4E67-A79D-9C264070BF45
publication date	1997-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28250958-F1B6DBE7-ADFF-49DB-ACFA-8CB2582FD729
language of work or name	English
exact match	wds:Q28250958-40EA2C81-5154-457E-A58C-6073DA5C4D9B
exact match	https://scigraph.springernature.com/pub.10.1038/ng1097-149
cites work	wds:Q28250958-0F23979B-C994-44E9-AEA1-4AF3B276AB38 wds:Q28250958-1C255837-D0F3-40C1-934F-31DEF6EFA397 wds:Q28250958-27E40660-AD9A-4134-9A65-6CBA8A80C3CA wds:Q28250958-2B7D0122-C8FA-49F7-89BA-E904E78A8F5F wds:Q28250958-3BF24841-FED6-4D61-98BD-72455E0213EC wds:Q28250958-698022F8-E8E9-4ECD-94EA-DC3A9BA5C4C9 wds:Q28250958-723EB72B-CC8E-4CC1-91D2-F8A40FFB390C wds:Q28250958-73FE961A-9D14-4BE7-BA35-46CB8A84D272 wds:Q28250958-77A42781-139F-4396-A269-3679FBAB17C3 wds:Q28250958-80D9F274-79D6-4DF5-A1AB-AD39B75A07E8 wds:Q28250958-819AB482-CB64-415F-B9BD-9D44EBDB62C2 wds:Q28250958-8D05ACCC-75AA-4134-B30F-F1D173D02A2C wds:Q28250958-ADFF4695-5D8B-44E4-AE32-2445CCC42866 wds:Q28250958-C61916F5-5E04-492B-8192-6F497CE47577 wds:Q28250958-DDE1FF41-4DDC-4108-A6A7-9BB295191D71 wds:Q28250958-F31946A9-C94C-4FF9-B67B-FB19F017F876 wds:Q28250958-FCD350B7-CD11-4E69-8DD1-22EF3550DD83
cites work	The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression A common language for physical mapping of the human genome. Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p The nephronophthisis complex. A clinicopathologic study in children Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis A conserved AU sequence from the 3' untranslated region of GM-CSF mRNA mediates selective mRNA degradation A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published e Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie Forging a path to the nucleus Molecular cloning of the interleukin-1 gene cluster: construction of an integrated YAC/PAC contig and a partial transcriptional map in the region of chromosome 2q13 Alternative splicing of human T-cell-specific MAL mRNA and its correlation with the exon/intron organization of the gene A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q One step 'miniprep' method for the isolation of plasmid DNA.
author name string	wds:Q28250958-0BC8F09E-1BAB-449B-A094-45A035EF7C4A wds:Q28250958-65A9498E-2513-4F26-9465-DEC3F8D261A3 wds:Q28250958-72AE347C-91CC-4CC6-B581-A7B5758CDE36 wds:Q28250958-B0342EC4-B656-4CB1-B2F5-768E1E5C8EE3 wds:Q28250958-BBA262C0-8C97-4A7E-9AFC-55AEB783DF2D wds:Q28250958-DB387287-DED8-44CF-9AB0-60BB64552A3C wds:Q28250958-E6B08571-857E-4FB9-8DF6-D49954488073
OpenCitations bibliographic resource ID	wds:Q28250958-6A743441-33D7-4FC5-A40A-20C2EA783B0D
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/4116966
author name string	Vollmer M Hildebrandt F Brandis M Nothwang HG Rensing C Adolphs J Hanusch H
OpenCitations bibliographic resource ID	4116966
rdfs:label	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (en) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (nl) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (ast)
skos:prefLabel	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (en) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (nl) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (ast)
name	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (en) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (nl) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (ast)
author	wds:Q28250958-9655E6CE-C6A5-4636-8C1B-A09A132AFD43
author	Edgar A. Otto
title	wds:Q28250958-D4A19266-AED4-4B0C-9B6B-99DD2A0CF0AD
title	A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (en)
page(s)	wds:Q28250958-A4D10B35-4FB9-4E69-8DCE-3E5146288F3E
page(s)	149-153
instance of	wds:Q28250958-424A6467-5E85-4DCD-BA6F-BAAF9D3CB06D
instance of	scholarly article
main subject	wds:Q28250958-A60768DD-A8CC-431A-8BF8-6056E7A1FB67
main subject	SH3 domain
PubMed ID	wds:Q28250958-61D6DC64-EC32-43F3-B73A-F9340154E173
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9326933
PubMed ID	9326933
published in	wds:Q28250958-D59FDDA0-1E08-40DE-BA2B-5F187F57D42B
published in	Nature Genetics
issue	wds:Q28250958-FDB85BAA-6FEE-4BC9-93A2-AE140D21F57D
volume	wds:Q28250958-0E32D98A-3514-4038-BC6A-4244301E7C56
issue	2
volume	17
DOI	wds:Q28250958-AF8D2BBF-4EA7-4B5F-B704-792A50EA9290
DOI	http://dx.doi.org/10.1038/NG1097-149

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