AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known v...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Appl Genet
Main Authors: Szczałuba, Krzysztof, Mierzewska, Hanna, Śmigiel, Robert, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Stawiński, Piotr, Pollak, Agnieszka, Rydzanicz, Małgorzata, Płoski, Rafał
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2020
Fag:
Human Genetics • Original Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7148264/
https://ncbi.nlm.nih.gov/pubmed/32166732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-020-00552-w
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker