Articles with "mutation exon" as a keyword



Recherche de mutation de l’exon 14 de MET au sein des carcinomes sarcomatoïdes pulmonaires : étude multicentrique rétrospective

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Published in 2017 at "Revue Des Maladies Respiratoires"

DOI: 10.1016/j.rmr.2016.10.022

Abstract: Introduction Les mutations du site d’epissage de l’exon 14 de MET sont de nouvelles cibles oncogeniques decrites dans pres de 3 % des cancers bronchiques non a petites cellules (CBNPC). Ces mutations ont ete rapportees a des… read more here.

Keywords: met sein; exon met; mutation exon; les mutations ... See more keywords

A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report

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Published in 2024 at "Medicine"

DOI: 10.1097/md.0000000000040107

Abstract: Rationale: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease caused by the neurogenic locus notch homolog protein 3 (NOTCH3) gene mutation. In recent years, most of the newly… read more here.

Keywords: rare heterozygous; heterozygous mutation; mutation exon; mutation ... See more keywords