NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants

BACKGROUND: We developed a Next‐Generation‐Sequencing (NGS) protocol to screen the most frequent genetic variants related to lymphedema and a group of candidate genes. The aim of the study was to find the genetic cause of lymphedema in the analyzed patients. METHODS: We sequenced a cohort of 246 Ita...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Michelini, Sandro, Ricci, Maurizio, Serrani, Roberta, Barati, Shila, Kenanoglu, Sercan, Veselenyiova, Dominika, Kurti, Danjela, Baglivo, Mirko, Basha, Syed Hussain, Priya, Sasi, Dautaj, Astrit, Dundar, Munis, Krajcovic, Juraj, Bertelli, Matteo
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7963424/
https://ncbi.nlm.nih.gov/pubmed/33247628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1529
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