Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

• المؤلفون الرئيسيون: Sirous Zeinali (مؤلف), Leila Youssefian (مؤلف), Hassan Vahidnezhad (مؤلف), Amir Hossein Saeidian (مؤلف), Soheila Sotoudeh (مؤلف), Hamideh Bagherian (مؤلف), Jouni Uitto (مؤلف)
• التنسيق: كتاب
• منشور في: Wolters Kluwer Health, 2021-06-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract. Objective:. Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly approach. In this study, we perform genome-wide s...