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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report

Fig. 2

a Process of identifying pathogenic genetic variants based on the results of whole-exome sequencing using a population database. b Sequence analysis of the ALDH3A2 gene of the proposita and her parents identified a splicing mutation, 798 + 1delG, from the father and a deletion mutation, 1291-1292delAA, of exon 9 from the mother. One kilogram, 1000 Genomes project (http://www.1000genomes.org/); ExAC, Exome aggregation consortium population databases (http://exac.broadinstitute.org/); rsID, reference single nucleotide polymorphism cluster ID

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