A unique triadin exon deletion causing a null phenotype
Sign Up to like & getrecommendations! Published in 2018 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2018.07.014
Abstract: Large deletions and duplications may be responsible for some of the cause of genetically elusive arrhythmia syndromes. Introduction Triadin is a transmembrane protein located in the sarcoplasmic reticulum; it interacts with both ryanodine (RYR2) and… read more here.
Keywords: unique triadin; deletion causing; triadin exon; null phenotype ... See more keywords
Identification of a novel 44.6‐kb deletion causing α0‐thalassemia in southern China
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.12643
Abstract: Alpha-thalassemia is characterized by a microcytic hypochromic anemia, and the majority of a-thalassemia (80– 90%) is caused by deletion(s) of a-genes in chromosome 16p13.3 [1, 2]. Approximately 50 deletions from the aglobin cluster have been… read more here.
Keywords: novel deletion; deletion causing; southern china; thalassemia ... See more keywords