KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9. More recently, variants in KIF1A have also been described in a few cases with autosomal dominant spastic parap...

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Autors principals: Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg
Format: Artigo
Idioma:anglès
Publicat: 2019
Accés en línia:https://doi.org/10.1038/s41431-019-0497-z
https://www.nature.com/articles/s41431-019-0497-z.pdf
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https://doi.org/10.1038/s41431-019-0497-z
https://www.nature.com/articles/s41431-019-0497-z.pdf

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