PMC:5097349 / 6971-7771 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5097349","sourcedb":"PMC","sourceid":"5097349","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5097349","text":"Her genomic DNA was extracted from the peripheral leucocytes when an informed consent was obtained from the patient and her husband. A heterogeneous missense mutation was detected in exon 8 (c.1246C \u003e T) of the GFAP gene, causing a change of arginine to tryptophan at amino acid position 416 (p.R416W). Her daughter’s genomic DNA showed the same heterozygous mutation but without any neurological symptoms [Fig. 5]. Upon clinical, family history, MRI finding and gene analysis, she was confirmed as adult AxD.\nFig. 5 The chromatograms of sequencing results. a The patient. b The daughter. c The control. In the area of the GFAP gene exon 8, there is a heterogeneous missense mutation point: c.1246C \u003e T (cytosine \u003e thymine, Aarrowhead), leading to amino acid change in p.R416W (arginine \u003e tryptophan)","divisions":[{"label":"label","span":{"begin":510,"end":516}}],"tracks":[]}