Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutati...
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
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London: BMJ Publishing Group Ltd
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English
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London: BMJ Publishing Group Ltd
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Background Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder characterised by progressive pontobulbar palsy and sensorineural deafness. Causative mutations in genes encoding human riboflavin transporter 2 (hRFT2) and 3 (hRFT3) have been identified in BVVL patients. Methods and results We report the clinical and molecular features of a sev...
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Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
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TN_cdi_proquest_miscellaneous_1551624334
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1551624334
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2012-101204
