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

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  • 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
http://linked.open...avai/riv/aktivity
  • I, Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 251616
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/10:6461
http://linked.open...riv/jazykVysledku
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
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
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
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
issn
  • 1059-7794
number of pages
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