Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements
| Autor: | J-P Altieri, Carine Templin, N. Stremler, Mireille Claustres, M. Des Georges, A. Girardet, Christophe Béroud, C. Guittard |
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| Přispěvatelé: | Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS) |
| Rok vydání: | 2007 |
| Předmět: |
Meconium
Heterozygote Cystic Fibrosis Molecular Sequence Data Cystic Fibrosis Transmembrane Conductance Regulator Biology Compound heterozygosity Cystic fibrosis 03 medical and health sciences Neonatal Screening Genetics medicine Humans Genetics (clinical) ComputingMilieux_MISCELLANEOUS 030304 developmental biology 0303 health sciences Base Sequence Models Genetic Ileal Diseases 030305 genetics & heredity Infant Newborn [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology medicine.disease 3. Good health Intestinal Diseases [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Mutation Trypsinogen Gene Deletion |
| Zdroj: | Clinical Genetics Clinical Genetics, Wiley, 2007, 72 (4), pp.374-377. ⟨10.1111/j.1399-0004.2007.00850.x⟩ Clinical Genetics, 2007, 72 (4), pp.374-377. ⟨10.1111/j.1399-0004.2007.00850.x⟩ |
| ISSN: | 0009-9163 1399-0004 |
| Popis: | International audience |
| Databáze: | OpenAIRE |
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