AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range-Reference-Cited by-同舟云学术

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AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range

Published:2022-11 Issue:11 Volume:65 Page:104620
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Salayev Kamran,Rocca Clarissa,Kaiyrzhanov Rauan,Guliyeva Ulviyya,Guliyeva Sughra,Mursalova Aytan,Rahman Fatima,Anwar Najwa,Zafar Faisal,Jan Farida,Rana Nuzhat,Maqbool Shazia,Efthymiou Stephanie,Houlden Henry

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference17 articles.

1. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome;Abdollahpour;Eur. J. Hum. Genet.,2015

2. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature;Abou Jamra;Am. J. Hum. Genet.,2011

3. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies;Accogli;Am. J. Med. Genet.,2018

4. Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4;Aguilar;J. Biol. Chem.,2001

5. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47);Bauer;Neurogenetics,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification and analyses of exonic and copy number variants in spastic paraplegia;Scientific Reports;2024-06-21

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