Učitavanje...

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family

Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for o...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Diagnostics (Basel)
Glavni autori: Nguyen, Ngoc-Lan, Ngoc, Can Thi Bich, Vu, Chi Dung, Nguyen, Thi Thu Huong, Nguyen, Huy Hoang
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7598670/
https://ncbi.nlm.nih.gov/pubmed/32987775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10100741
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!