Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

BACKGROUND: In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-causing v...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Borges, Pâmella, Pasqualim, Gabriela, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7672855/
https://ncbi.nlm.nih.gov/pubmed/33208168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01608-0
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker