Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing
Küçük Resim Yok
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Nature Publishing Group
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
[No Abstract Available]
Açıklama
Görmez, Zeliha (isu author)
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) -- JUN 16-19, 2018 -- Milan, ITALY
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) -- JUN 16-19, 2018 -- Milan, ITALY
Anahtar Kelimeler
Kaynak
European Journal of Human Genetics
WoS Q Değeri
Q2
Scopus Q Değeri
Cilt
27
Sayı
Künye
Akcakaya, N. H., Salman, B., Arguden, Y. T., Gormez, Z., Donmez, R., Colakoglu, B., & Iseri, S. A. (2019). Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing.
