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The individuals inherit a causative mutation in their BRCA1 gene. これらの個体はBRCA1遺伝子における原因的突然変異を承継している。 - 特許庁.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Jun 26, 2021 · Evidence suggests that the transparent phenotype of juvenile red sea bream is caused by the missense mutation of duoxa and that this mutation disrupts thyroid ...
We also identify the gene and protein that most commonly causes each disease. 34 of these disorders are caused exclusively by mutations in only a single gene ...
Nov 13, 2009 · For the first time, scientists discover causative gene of a rare disorder by sequencing all protein-coding regions of the genome. Leila Gray. UW ...
Mar 23, 2020 · The aim of this study was to determine the causative mutation in a large European Australian family with FTD-ALS, with no mutations in known ...
causative geneとは. X. causative geneの検索結果. 1件 検索結果一覧を見る. causative gene の意味・使い方・読み方. causative gene. 原因遺伝子｛げんいん いでんし｝.
Oct 23, 2018 · A large international research team has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome.
Jan 15, 2018 · Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome.
Jun 27, 2023 · Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)
