An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey

Ozturk, FN; Duman, TA

Ozturk, FN (通讯作者),Istanbul Haseki Training & Res Hosp, Dept Med Genet, TR-34265 Istanbul, Turkey.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (5): 663

Abstract

Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism, mostly caused by PAH gene variants. The aim of this study was to......

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