Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

被引：17

作者：

Bardelli, T

Donati, MA

Gasperini, S

Ciani, F

Belli, F

Blau, N

Morrone, A ^{[1
]}

Zammarchi, E

机构：

[1] Univ Florence, Dept Pediat, Metab & Neuromuscular Unit, I-50121 Florence, Italy

[2] Univ Zurich, Childrens Hosp, Dept Paediat, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland

来源：

MOLECULAR GENETICS AND METABOLISM | 2002年 / 77卷 / 03期

关键词：

D O I：

10.1016/S1096-7192(02)00166-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hyperphenylalaninemia (HPA), due to a deficiency of phenylalanine hydroxylase (PAH) enzyme, is caused by mutations in the PAH gene. Molecular analysis in 23 Italian patients with PAH deficiency identified two novel (P281R, L287V) and 20 previously described genetic lesions in the PAH gene. The detection of the A403V amino acid substitution in combination with null mutations in patients with Bh(4)-responsive PAH deficiency leads us to correlate it with BH4 responsiveness. (C) 2002 Elsevier Science (USA). All rights reserved.

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页码：260 / 266

页数：7

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