Mutation Screening of TFG in α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
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DOI: 10.1002/mds.29079
Abstract: Recently, p.R383H in TFG was identified as the disease cause in a family with α‐synucleinopathy and amyotrophic lateral sclerosis (ALS). However, no further replication has been conducted in larger cohorts. read more here.
Keywords: mutation screening; synucleinopathy amyotrophic; lateral sclerosis; tfg ... See more keywords
BRCA mutation screening and patterns among high-risk Lebanese subjects
Sign Up to like & getrecommendations! Published in 2019 at "Hereditary Cancer in Clinical Practice"
DOI: 10.1186/s13053-019-0105-9
Abstract: BackgroundPrevious studies have suggested that the prevalence of BRCA1 and 2 mutations in the Lebanese population is low despite the observation that the median age of breast cancer diagnosis is significantly lower than European and… read more here.
Keywords: patterns among; screening patterns; mutation screening; brca mutation ... See more keywords