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Titel:

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Haack, TB; Makowski, C; Yao, Y; Graf, E; Hempel, M; Wieland, T; Tauer, U; Ahting, U; Mayr, JA; Freisinger, P; Yoshimatsu, H; Inui, K; Strom, TM; Meitinger, T; Yonezawa, A; Prokisch, H
Abstract:
Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transpo...     »
Zeitschriftentitel:
J Inherit Metab Dis
Jahr:
2012
Band / Volume:
35
Heft / Issue:
6
Seitenangaben Beitrag:
943-8
Sprache:
eng
Volltext / DOI:
doi:10.1007/s10545-012-9513-y
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/22864630
Print-ISSN:
0141-8955
TUM Einrichtung:
Institut für Humangenetik
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