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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F10%3A6461%21RIV11-MZ0-00064203
rdf:type
skos:Concept n12:Vysledek
dcterms: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.
dcterms: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
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
skos:notation
RIV/00064203:_____/10:6461!RIV11-MZ0-00064203
n3:aktivita
n10:I n10:Z
n3:aktivity
I, Z(MZ0FNM2005)
n3:cisloPeriodika
4
n3:dodaniDat
n9:2011
n3:domaciTvurceVysledku
n15:9104992
n3:druhVysledku
n13:J
n3:duvernostUdaju
n14:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
251616
n3:idVysledku
RIV/00064203:_____/10:6461
n3:jazykVysledku
n8:eng
n3: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
n3:klicoveSlovo
n5:CHRONIC-PANCREATITIS n5:DUPLICATIONS n5:copy%20number%20mutation n5:DELETIONS n5:SERIAL%20REPLICATION%20SLIPPAGE n5:duplication n5:BREAK-INDUCED%20REPLICATION n5:copy%20number%20variation n5:GENOMIC%20REARRANGEMENTS n5:deletion n5:B%20DNA%20CONFORMATIONS n5:TRYPSINOGEN%20LOCUS n5:CGH n5:CFTR n5:CYSTIC-FIBROSIS%20GENE n5:IDENTIFICATION n5:CNM n5:CNV
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[0DF0A552C037]
n3:nazevZdroje
Human Mutation
n3:obor
n17:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
18
n3:rokUplatneniVysledku
n9:2010
n3:svazekPeriodika
31
n3:tvurceVysledku
Stenson, Peter D. Messaoud, Taieb Benech, Caroline Cutting, Garry R. Ferec, Claude Cooper, David N Cuppens, Harry Bienvenu, Thierry Casals, Teresa Giteau, Karine McDevitt, Trudi Chuzhanova, Nadia Audrezet, Marie-Pierre Loumi, Ourida Quemener, Sylvia Macek jr., Milan Chen, Jian-Min Farrell, Philip M
n3:wos
000276810600006
n3:zamer
n16:MZ0FNM2005
s:issn
1059-7794
s:numberOfPages
8