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

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.