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Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon

BACKGROUND: The impact of complex alleles on CFTR processing and function has yet not been investigated in native human tissue. METHODS: Intestinal current measurements (ICM) followed by CFTR immunoblot were performed on rectal biopsies taken from two siblings who are compound heterozygous for the C...

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Detalles Bibliográficos
Autores principales:	Schucht, Sylvia, Minso, Rebecca, Lex, Christiane, Reiss, Jochen, Stanke, Frauke, Tamm, Stephanie, van Barneveld, Andrea, Tümmler, Burkhard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393651/ https://www.ncbi.nlm.nih.gov/pubmed/30600599 http://dx.doi.org/10.1002/mgg3.526

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