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...

Descripción completa

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

Internet

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

Ejemplares similares