Cargando…
Molecular Analysis of Cystic Fibrosis Patients in Hungary – An Update to the Mutational Spectrum
BACKGROUND: In this study the authors present an update to the CFTR mutation profile in Hungary, utilizing data from a selected cohort of 45 cystic fibrosis (CF) patients from different regions of the country. METHODS: Depending on the preceding analysis, four different mutation detection methods we...
Autores principales: | Ivády, Gergely, Koczok, Katalin, Madar, Laszlo, Gombos, Eva, Toth, Izabella, Gyori, Klaudia, Balogh, István |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society of Medical Biochemists of Serbia
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922332/ https://www.ncbi.nlm.nih.gov/pubmed/28356823 http://dx.doi.org/10.2478/jomb-2014-0055 |
Ejemplares similares
-
Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system
por: Ivády, Gergely, et al.
Publicado: (2018) -
Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study
por: Andó, Szilvia, et al.
Publicado: (2022) -
Neonatal Screening for Cystic Fibrosis in Hungary—First-Year Experiences
por: Xue, Andrea, et al.
Publicado: (2023) -
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report
por: Molnár, Zsuzsanna, et al.
Publicado: (2017) -
Helsmoortel–Van der Aa Syndrome—Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
por: Szabó, Tímea Margit, et al.
Publicado: (2022)