Caricamento...

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological findings from 2016 to 2019. Patients with a sugge...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: Mahdieh, Nejat, Soveizi, Mahdieh, Tavasoli, Ali Reza, Rabbani, Ali, Ashrafi, Mahmoud Reza, Kohlschütter, Alfried, Rabbani, Bahareh
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7864965/
https://ncbi.nlm.nih.gov/pubmed/33547378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-82778-0
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !