Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient
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- 作者：Paramasivam Manimarana ; Veedamali S. Subramanianb ; c ; Sellamuthu Karthia ; Krishnan Gandhimathia ; Perumal Varalakshmia ; Ramasamy Ganeshd ; Andiappan Rathinavele ; Hamid M. Saidb ; c ; Balasubramaniem Ashokkumara ; rbashokkumar@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：hTHTR-1 ; Retinitis pigmentosa ; SLC19A2 ; TRMA
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：15 January 2016
- 年：2016
- 卷：452
- 期：Complete
- 页码：44-49
- 全文大小：1171 K
文摘
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We analyzed the SLC19A2 gene in a TRMA patient of Indian descent.
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A novel nonsense mutation was identified in the SLC19A2 gene for the first time.
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GPCR motif ablation in variant suggesting a role in vision impairment of patient.
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Thiamine transport activity by the variant was completely disrupted.