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2012 | 1 |
2014 | 2 |
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Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).
Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.
Neurogenetics. 2012.
PMID: 22290197
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Sahin S, Çomu S, Günel M.
Tüysüz B, et al.
Am J Med Genet A. 2014 Jul;164A(7):1677-85. doi: 10.1002/ajmg.a.36514. Epub 2014 Apr 3.
Am J Med Genet A. 2014.
PMID: 24700674
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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K.
Abdollahpour H, et al.
Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30.
Eur J Hum Genet. 2015.
PMID: 24781758
Free PMC article.
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