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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...

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Detalles Bibliográficos
Autores principales:	Szczałuba, Krzysztof, Mierzewska, Hanna, Śmigiel, Robert, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Stawiński, Piotr, Pollak, Agnieszka, Rydzanicz, Małgorzata, Płoski, Rafał
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2020
Materias:	Human Genetics • Original Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148264/ https://www.ncbi.nlm.nih.gov/pubmed/32166732 http://dx.doi.org/10.1007/s13353-020-00552-w

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