Article
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2016
Manimaran Paramasivam, Subramanian Veedamali S, Karthi Sellamuthu, Gandhimathi Krishnan, Varalakshmi Perumal, Ganesh Ramasamy, Rathinavel Andiappan, Said Hamid M, Ashokkumar Balasubramaniem
Abstract excerpt
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, and sensorineural deafness. Here, we report a female TRMA patient of Indian descent born to 4th degree consanguineous parents presented with retinitis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.