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  • Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.

Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.

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2016 Jan 15 Others P Manimaran, VS Subramanian, S Karthi… - Clinica Chimica …, 2016 - Elsevier

Full Author : ['Manimaran, Paramasivam', 'Subramanian, Veedamali S', 'Karthi, Sellamuthu', 'Gandhimathi, Krishnan', 'Varalakshmi, Perumal', 'Ganesh, Ramasamy', 'Rathinavel, Andiappan', 'Said, Hamid M', 'Ashokkumar, Balasubramaniem']
Journal Title : Clinica chimica acta; international journal of clinical chemistry
Chapter : Section3
Journal Year : 2016
Cited by : 9.0

Thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive disorder, is caused by mutations in SLC19A2 gene encodes a high affinity thiamine transporter (THTR-1). The occurrence of TRMA is diagnosed by megaloblastic anemia, diabetes mellitus,..... Read More

Keywords : ["gene cause thiamine responsive megaloblastic anemia", "novel nonsense mutation", "indian patient"]
PubMed Link : https://www.sciencedirect.com/science/article/pii/S0009898115300395
Google Scholar Link : https://scholar.google.com/scholar?cites=12337082265466043846&as_sdt=5,26&sciodt=0,26&hl=en&num=20