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Article

[Genetic analysis of a mosaic case with low proportion mutation of TSC2 gene].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Oct 2020

Jin Xiaoxiao, Jin Pengzhen, Yan Kai, Qian Yeqing, Dong Minyue

Abstract excerpt

OBJECTIVE: To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis. METHODS: Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of TSC1 and TSC2 genes in the proband were sequenced by whole exome sequencing to determine the candidate pathogenic...

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Identifiers

PMID: 33210484
DOI: 10.3785/j.issn.1008-9292.2020.10.06
PMCID: PMC8800681

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