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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey

Background: Cystic fibrosis (CF) is the most common worldwide, life-shortening multisystem hereditary disease, with an autosomal recessive inheritance pattern caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The national newborn screening (NBS) program for...

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Detalles Bibliográficos
Autores principales:	Bozdogan, Sevcan Tug, Mujde, Cem, Boga, Ibrahim, Sonmezler, Ozge, Hanta, Abdullah, Rencuzogullari, Cagla, Ozcan, Dilek, Altintas, Derya Ufuk, Bisgin, Atil
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7910984/ https://www.ncbi.nlm.nih.gov/pubmed/33572515 http://dx.doi.org/10.3390/genes12020206

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