Učitavanje...

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

OBJECTIVE: To perform genotype–phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS: We performed whole-exome sequencing in a preterm neonate...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Neurology
Glavni autori: Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2016
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5027803/
https://ncbi.nlm.nih.gov/pubmed/27558372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003095
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!