دورية أكاديمية
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
| العنوان: | Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy |
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| المؤلفون: | D'Apice, M, Bengala, M, Russo, S, Nardone, A, Lucidi, V, GAMBARDELLA, SERGIO, SANGIUOLO, FEDERICA CARLA, NOVELLI, GIUSEPPE |
| المساهمون: | D'Apice, M, Gambardella, S, Bengala, M, Russo, S, Nardone, A, Lucidi, V, Sangiuolo, Fc, Novelli, G |
| بيانات النشر: | BioMed Central |
| سنة النشر: | 2004 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| مصطلحات موضوعية: | Nucleic Acid Denaturation, Polymorphism, Genetic, Exon, DNA Mutational Analysi, Human, Leukocyte, Child, Mutation, Missense, Chromatography, High Pressure Liquid, Italy, Genetic Testing, Cystic Fibrosi, Cystic Fibrosis Transmembrane Conductance Regulator, Cohort Studie, DNA, Intron, 5' Untranslated Region, Sequence Deletion, Settore MED/03 - GENETICA MEDICA |
| الوصف: | Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes. Symptoms are pulmonary disease, pancreatic exocrine insufficiency, male infertility and elevated sweat concentrations. The CFTR gene has numerous mutations (>1000) and functionally important polymorphisms (>200). Early identification is important to provide appropriate therapeutic interventions, prognostic and genetic counselling and to ensure access to specialised medical services. However, molecular diagnosis by direct mutation screening has proved difficult in certain ethnic groups due to allelic heterogeneity and variable frequency of causative mutations. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/wos/15084222; volume:5; firstpage:8; lastpage:8; numberofpages:1; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/2108/30271Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-2542428577 |
| DOI: | 10.1186/1471-2350-5-8 |
| الإتاحة: | https://doi.org/10.1186/1471-2350-5-8Test http://hdl.handle.net/2108/30271Test |
| رقم الانضمام: | edsbas.F596A365 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/1471-2350-5-8 |
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