
Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene
Author(s) -
Yuting Wang,
Songnian Hu,
Xinyu Tan,
Qingqing Sang,
Peng Shi,
Chun Wang,
Daoqian Sang
Publication year - 2022
Publication title -
international journal of general medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.722
H-Index - 36
ISSN - 1178-7074
DOI - 10.2147/ijgm.s359702
Subject(s) - dbsnp , sanger sequencing , genetics , exon , tsc1 , tuberous sclerosis , intron , single nucleotide polymorphism , gene , candidate gene , mutation , international hapmap project , biology , medicine , genotype , pathology , apoptosis , pi3k/akt/mtor pathway
The aim of this study was to screen the possible pathogenic genes of one family with tuberous sclerosis complexes (TSCs).