Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency

• Main Authors: Van Khanh Tran (Author), Quang Minh Diep (Author), Zilong Qiu (Author), Thi Phuong Le (Author), Long Duy Do (Author), Hai Anh Tran (Author), The-Hung Bui (Author), Thanh Van Ta (Author), Thinh Huy Tran (Author)
• Format: Book
• Published: Elsevier, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. Case report: We report a non-consanguineous couple who had three daughters, a...