Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria

Wang, L; He, B; Jin, QJ; Bai, RM; Yu, WW; Qiang, R; Wang, XB

Wang, XB (通讯作者),Northwest Womens & Childrens Hosp, 1616 Yanxiang Rd, Xian 710061, Shaanxi, Peoples R China.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (3): 387

Abstract

Objectives Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phen......

Full Text Link