A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
Sign Up to like & getrecommendations! Published in 2017 at "Bone"
DOI: 10.1016/j.bone.2017.07.013
Abstract: GNAS exons 1-13 encode the biallelically expressed alpha-subunit of the stimulatory G protein (Gαs). Additional transcripts derived from this locus use alternative first exons that undergo parent-specific methylation, thus allowing transcription only from the non-modified… read more here.
Keywords: refines region; methylation; gnas exon; novel deletion ... See more keywords
Identification of a novel 44.6‐kb deletion causing α0‐thalassemia in southern China
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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