Haploinsufficiency of the NF1 gene is associated with protection against diabetes

BACKGROUND: The hereditary predisposition to diabetes is only partially explained by genes identified so far. Neurofibromatosis type 1 (NF1) is a rare monogenic dominant syndrome caused by aberrations of the NF1 gene. Here, we used a cohort of 1410 patients with NF1 to study the association of the N...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Kallionpää, Roope A, Peltonen, Sirkku, Leppävirta, Jussi, Pöyhönen, Minna, Auranen, Kari, Järveläinen, Hannu, Peltonen, Juha
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2021
Teme:
Genotype-Phenotype Correlations
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8142421/
https://ncbi.nlm.nih.gov/pubmed/32571896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-107062
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki