Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women

BACKGROUND: Several inherited metabolic diseases are underreported in Vietnam, namely glucose‐6‐phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic...

Descripción completa

Detalles Bibliográficos
Autores principales: Nguyen, Tat‐Thanh, Le, Quang‐Thanh, Hoang, Diem‐Tuyet Thi, Du Nguyen, Huu, Ha, Thi Minh Thi, Nguyen, My‐Nhi Ba, Ta, Thanh‐Thuy Thi, Tran, Nhat Thang, Trinh, Thu Huong Nhat, Doan, Kim Phuong Thi, Lam, Duc Tam, Tran, Son Tra Thi, Nguyen, Thanh Xuan, Le, Hong‐Thinh, Ha, Van Tuan, Nguyen, Manh Hoan, Le, Ba‐Liem Kim, Duong, My Linh, Pham, Trung Ha, Tran, Anh Tuan, Phan, Xuan Lan Thi, Huynh, Thanh Liem, Nguyen, Lan‐Phuong Thi, Vo, Thanh Binh, Le, Duy‐Khang Nguyen, Tran, Ngoc Nhu Thi, Tran, Quynh Nhu Thi, Van, Yen‐Linh Thi, Huynh, Bich‐Ngoc Thi, Nguyen, Thanh‐Phương Thi, Dao, Trang Thi, Nguyen, Lan Phuong Thi, Vo, Truong‐Giang, Do, Thanh‐Thuy Thi, Truong, Dinh‐Kiet, Tang, Hung Sang, Phan, Minh‐Duy, Nguyen, Hoai‐Nghia, Giang, Hoa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266602/
https://www.ncbi.nlm.nih.gov/pubmed/35502621
http://dx.doi.org/10.1002/mgg3.1959

Ejemplares similares

Ejemplares similares