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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

Fig. 1

a Schematic showing the location of all the SLC19A3 variants identified in this study and in the literature on the six-exon SLC19A3 structure (transcript NM 025243.4). The novel variants identified in this study are highlighted in red. The previously reported Saudi founder reported in this study in green. The lower part of the figure represents all the SLC19A3 variants reported in the literature. b Pedigree of Case 9 with segregation of the novel variant c.952G > A;p.(Ala318Thr). c Pedigree of Case 15 with segregation of the novel variant c.175T > C;p.(Trp59Arg). d Multiple sequence alignment of the two novel variants reported in this study

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172