Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2...

Clinica Chimica Acta 2016 / 01 Vol. 452

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

Manimaran, Paramasivam, Subramanian, Veedamali S., Karthi, Sellamuthu, Gandhimathi, Krishnan, Varalakshmi, Perumal, Ganesh, Ramasamy, Rathinavel, Andiappan, Said, Hamid M., Ashokkumar, Balasubramaniem
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Volume:
452
Language:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2015.11.002
Date:
January, 2016
File:
PDF, 1.65 MB
english, 2016
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