About: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

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About: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) ലേഖനം (ml) հոդված (hy) wetenschappelijk artikel (nl) наукова стаття, опублікована у 2000 (uk) wüsseschaftlicher Artikel, wo im Johr 2000 veröffentlicht worden isch (gsw) im Jahr 2000 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q56241320-93AE1DFC-7981-4545-84B5-AF06A9DA0087 wds:Q56241320-BEF21CE7-87F1-4295-AD7E-03862E499D30
publication date	2000-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q56241320-015000A9-2570-453C-B7CE-C1B38F834DCF wds:Q56241320-11751409-15C2-4E0D-825F-6890B1313E7B wds:Q56241320-1A507F0C-8B5C-4C00-9C17-178051AB5221 wds:Q56241320-30C44C9C-EBFF-4CD8-A989-86F63003E054 wds:Q56241320-37223DD4-4983-4A22-B022-866C50C48962 wds:Q56241320-5B5D20D0-0A62-46F3-8C6A-974320036378 wds:Q56241320-5DC9F4C4-2653-4D16-92DC-36342AA1AEE6 wds:Q56241320-620A4C9B-4C9F-4B35-BFE3-685AAB4EAB35 wds:Q56241320-6E737E9E-995C-4205-BF88-6A6E1F1577DA wds:Q56241320-7593111E-3B6D-479C-BEE2-0EBCF15C9B19 wds:Q56241320-75C0AB4F-2A9F-4BB4-8671-29A75BCC2315 wds:Q56241320-78E21D14-5D8F-4227-B4AD-E28835476C95 wds:Q56241320-8F45A9FA-FC4D-4908-90DB-77E02C6BC7F4 wds:Q56241320-92946443-7A7C-48ED-9BE4-6EA3E9FF9A8C wds:Q56241320-97C2BCED-756E-47E5-A8EC-3142DB5232CF wds:Q56241320-A5226D67-CD13-4CCB-90D9-CBCE029E9C99 wds:Q56241320-BAB07D6D-CC7B-44C5-9CF7-7147F6FE9A9E wds:Q56241320-BEF75DFB-8EA9-4174-918C-8D30BD717104 wds:Q56241320-DCEBEE89-61B5-43C4-9433-ADE226AED8FC wds:Q56241320-E433A1A9-51B0-4BF1-8865-11BC0527D5EE wds:Q56241320-F1CD524D-9168-4BCF-AD56-A8FDC6762C90 wds:Q56241320-F55ADAF9-79FF-4EDB-94F8-0D0C6C0CBF2E wds:Q56241320-F8CA4DB8-C0FF-4F49-98CA-6DEAB515FB56
author name string	Eric Bieth Dominique Bozon Martine Blayau Thierry Bienvenu Nicole Monnier Delphine Feldmann Claude Ferec Christine Clavel Marie-Claire Malinge Cécile Cazeneuve Hervé Mittre Caroline Guittard Perrine Malzac Jean-Claude Chomel Isabelle Creveaux Viviane Dumur Michèle Chery Marie Des Georges Albert Iron Guy Lalau Emanuelle Girodon Claudine Verlingue Françoise Chevalier
rdfs:label	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (en) Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (nl)
skos:prefLabel	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (en) Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (nl)
name	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (en) Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (nl)
author	wds:Q56241320-3F4A8A6B-C0D1-4FA0-B1B3-8551883B64F4 wds:Q56241320-DD042AB4-412D-4AB4-B673-34DA4CF179EC
author	Jean-Paul Bonnefont Mireille Claustres
title	wds:Q56241320-4319DE4C-E772-40D0-A27C-9B0A338454EC
title	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (en)
page(s)	wds:Q56241320-8C679B64-7A6B-452F-973E-CA4207ED8F48
page(s)	143-156
instance of	wds:Q56241320-A179389D-B821-4C55-8AC8-25CCA9006692
instance of	scholarly article
main subject	wds:Q56241320-14332DCF-7E75-40DF-B78F-FF4FF21A7D79
main subject	cystic fibrosis
PubMed ID	wds:Q56241320-A51D710C-64D4-4418-A0B3-544EFCCF6BED
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10923036
PubMed ID	10923036
published in	wds:Q56241320-2E2D1D1E-D2D9-4354-8296-C7D8950155B9
published in	Human Mutation
issue	wds:Q56241320-07E73939-77E1-40E8-BE07-345FCDE19F60
volume	wds:Q56241320-5957705D-44FD-48E4-9744-38863FBE5415
issue	2
volume	16
number of pages	wds:Q56241320-8DFBE448-B112-4A3D-99AE-4EFCA6749E36
number of pages	14 (xsd:decimal)
DOI	wds:Q56241320-365AFC03-DF5B-45E9-8D36-84A3B464EEA1
DOI	http://dx.doi.org/10.1002/1098-1004(200008)16:2%3C143::AID-HUMU7%3E3.0.CO;2-J
DOI	10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J
is owl:sameAs of	Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56241320
is cites work of	Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors Molecular pathology of the CFTR locus in male infertility Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis Improved detection of CFTR mutations in Southern California Hispanic CF patients Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

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