Consulter en ligne

Suggestions

Du même auteur

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes

Archive ouverte | Le Tertre, Marlène | CCSD

International audience

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Archive ouverte | Lin, Jin‐huan | CCSD

International audience. It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating ...

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

Archive ouverte | Ka, Chandran | CCSD

International audience

Chargement des enrichissements...