CFTR c.458G>T ;(p.R153I)

Variant ID: 7-117171137-G-T

NM_000492.3(CFTR):c.458G>T;(p.R153I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Increased Soluble VCAM-1 and Normal P-Selectin in Cystic Fibrosis: a Cross-Sectional Study.

Lung
Nowak, Jan K JK; Wojsyk-Banaszak, Irena I; Mądry, Edyta E; Wykrętowicz, Andrzej A; Krzyżanowska, Patrycja P; Drzymała-Czyż, Sławomira S; Nowicka, Agata A; Pogorzelski, Andrzej A; Sapiejka, Ewa E; Skorupa, Wojciech W; Szczepanik, Mariusz M; Lisowska, Aleksandra A; Walkowiak, Jaroslaw J
Publication Date: 2017-08

Variant appearance in text: CFTR: R153I
PubMed Link: 28646244
Variant Present in the following documents:
  • Main text
  • 408_2017_Article_29.pdf
View BVdb publication page



Determinants of Serum Glycerophospholipid Fatty Acids in Cystic Fibrosis.

International Journal Of Molecular Sciences
Drzymała-Czyż, Sławomira S; Krzyżanowska, Patrycja P; Koletzko, Berthold B; Nowak, Jan J; Miśkiewicz-Chotnicka, Anna A; Moczko, Jerzy A JA; Lisowska, Aleksandra A; Walkowiak, Jarosław J
Publication Date: 2017-01-18

Variant appearance in text: CFTR: R153i
PubMed Link: 28106773
Variant Present in the following documents:
  • Main text
  • ijms-18-00185.pdf
View BVdb publication page



CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 458G>T; R153I
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
  • pone.0089094.pdf
View BVdb publication page