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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…
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Keywords:
unique triadin;
deletion causing;
triadin exon;
null phenotype ... See more keywords
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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…
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Keywords:
novel deletion;
deletion causing;
southern china;
thalassemia ... See more keywords