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Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
Feuillet-Fieux, M N; Sermet, I; Edelman, A; Torossi, T; Ferrec, M; Guillot, M; Lenoir, G; Bonnefont, J P; Thuillier, L.
Affiliation
  • Feuillet-Fieux MN; Laboratory of Biochemical Genetic, INSERM U467, Groupe Hospitalier Necker Enfants-Malades, 149 rue de S¿vres 75743 Paris Cedex 15, France.
Hum Mutat ; 16(1): 95, 2000 Jul.
Article in En | MEDLINE | ID: mdl-10874326
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Collection: 01-internacional Database: MEDLINE Main subject: Exons / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2000 Document type: Article Affiliation country: Francia
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Collection: 01-internacional Database: MEDLINE Main subject: Exons / Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2000 Document type: Article Affiliation country: Francia