About: Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci

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About: Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Over the last 20 years since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations have been identified. Over the last 20 years since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations have been identified. (en)
Title	Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci (en)
skos:prefLabel	Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci (en)
skos:notation	RIV/00064203:_____/10:6461!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Macek jr., Milan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	251616
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6461
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CFTR; copy number mutation; CNM; copy number variation; CNV; deletion; duplication; CGH; CYSTIC-FIBROSIS GENE; SERIAL REPLICATION SLIPPAGE; BREAK-INDUCED REPLICATION; B DNA CONFORMATIONS; GENOMIC REARRANGEMENTS; CHRONIC-PANCREATITIS; TRYPSINOGEN LOCUS; DELETIONS; IDENTIFICATION; DUPLICATIONS (en)
http://linked.open.../riv/klicoveSlovo	deletion copy number variation CFTR IDENTIFICATION duplication CGH B DNA CONFORMATIONS BREAK-INDUCED REPLICATION CHRONIC-PANCREATITIS CNM CNV CYSTIC-FIBROSIS GENE DELETIONS DUPLICATIONS GENOMIC REARRANGEMENTS SERIAL REPLICATION SLIPPAGE TRYPSINOGEN LOCUS copy number mutation
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[0DF0A552C037]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	18 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	31
http://linked.open...iv/tvurceVysledku	Macek jr., Milan Chen, Jian-Min Audrezet, Marie-Pierre Benech, Caroline Bienvenu, Thierry Casals, Teresa Chuzhanova, Nadia Cooper, David N Cuppens, Harry Cutting, Garry R. Farrell, Philip M Ferec, Claude Giteau, Karine Loumi, Ourida McDevitt, Trudi Messaoud, Taieb Quemener, Sylvia Stenson, Peter D.
http://linked.open...ain/vavai/riv/wos	000276810600006
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1059-7794
number of pages	8 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci

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