Deletion of CFTR Translation Start Site Reveals Functional Isoforms of the Protein in CF Patients | Zendy

Anabela S. Ramalho | Zendy; Marzena Anna Lewandowska | Zendy; Carlos M. Farinha | Zendy; Filipa Mendes | Zendy; Juan Marco Figueira Gonçálves | Zendy; Celeste Barreto | Zendy; Ann Harris | Zendy; Margarida D. Amaral | Zendy

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Deletion of CFTR Translation Start Site Reveals Functional Isoforms of the Protein in CF Patients

Author(s) -

Anabela S. Ramalho,

Marzena Anna Lewandowska,

Carlos M. Farinha,

Filipa Mendes,

Juan Marco Figueira Gonçálves,

Celeste Barreto,

Ann Harris,

Margarida D. Amaral

Publication year - 2009

Publication title -

cellular physiology and biochemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.486

H-Index - 87

eISSN - 1421-9778

pISSN - 1015-8987

DOI - 10.1159/000257426

Subject(s) - translation (biology) , mutation , biology , missense mutation , mutant , exon , mutant protein , genetics , gene , cystic fibrosis , phenotype , stop codon , microbiology and biotechnology , messenger rna

Mutations in the CFTR gene cause Cystic Fibrosis (CF) the most common life-threatening autosomal recessive disease affecting Caucasians. We identified a CFTR mutation (c.120del23) abolishing the normal translation initiation codon, which occurs in two Portuguese CF patients. This study aims at functionally characterizing the effect of this novel mutation.

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