Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death

Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We exa...

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Detalles Bibliográficos
Autores principales: Hirst, Caroline S., Stamp, Lincon A., Bergner, Annette J., Hao, Marlene M., Tran, Mai X., Morgan, Jan M., Dutschmann, Matthias, Allen, Andrew M., Paxinos, George, Furlong, Teri M., McKeown, Sonja J., Young, Heather M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709403/
https://www.ncbi.nlm.nih.gov/pubmed/29192291
http://dx.doi.org/10.1038/s41598-017-16965-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709403/
https://www.ncbi.nlm.nih.gov/pubmed/29192291
http://dx.doi.org/10.1038/s41598-017-16965-3

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