Učitavanje...

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin deficiency is typically associated with a more severe congenital muscular dystrophy (CMD), clinically manifested by hypoton...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Front Mol Neurosci
Glavni autori: Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7419697/
https://ncbi.nlm.nih.gov/pubmed/32848593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2020.00123
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!