A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

15 Sep 2023
0

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

Kantaputra PN, Angkurawaranon S, Intachai W, Ngamphiw C, Olsen B, Tongsima S, Cox TC, Cairns, JRK

Genes. 2023;14(2):322.

Tags

Share this

Related Posts

Worawittayanon, P., Ruadreo, J., Disadee, W., Sahakitpichan, P., Sitthimonchai, S., Thasana, N., . . . Kanchanapoom, T. (2012). Iridoid and flavone glycosides from Asystasia gangetica subsp. micrantha and Asystasia salicifolia and their antioxidant activities. Biochemical Systematics and Ecology, 40, 38-42. https://doi.org/10.1016/j.bse.2011.08.016
A comparative study of venomics of Naja naja from India and Sri Lanka, clinical manifestations and antivenomics of an Indian polyspecific antivenom. Sintiprungrat K, Watcharatanyatip K, Senevirathne WD, Chaisuriya P, Chokchaichamnankit D, Srisomsap C, Ratanabanangkoon K*. J Proteomics. 2016 Jan 30;132:131-43.

Recent Posts