A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

Akcakaya, Nihan Hande; Salman, Baris; Gormez, Zeliha; Arguden, Yelda Tarkan; Cirakoglu, Ayse; Cakmur, Raif; Colakoglu, Berril Donmez; Hacihanefioglu, Seniha; Ozbek, Ugur; Yapici, Zuhal; Iseri, Sibel Aylin Ugur

doi:10.1007/s12017-018-08522-6

A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

Date

2019

Authors

Akcakaya, Nihan Hande

Salman, Baris

Gormez, Zeliha

Arguden, Yelda Tarkan

Cirakoglu, Ayse

Cakmur, Raif

Colakoglu, Berril Donmez

Hacihanefioglu, Seniha

Ozbek, Ugur

Yapici, Zuhal

dc.identifier.doi

10.1007/s12017-018-08522-6

dc.identifier.other

WOS:000458670800006

Publisher

HUMANA PRESS INC

DOI

10.1007/s12017-018-08522-6

Keywords

WDR45 , Mosaicism , Whole exome sequencing , X chromosome heterozygosity , BPAN

URI

https://openaccess.acibadem.edu.tr/handle/11443/8075

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A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

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