Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria-Reference-Cited by-同舟云学术

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

Published:2008 Issue:5 Volume:40 Page:533
ISSN:1226-3613
Container-title:Experimental and Molecular Medicine
language:en
Short-container-title:Exp Mol Med

Author:

Lee Yong-Wha¹,Lee Dong Hwan²,Kim Nam-Doo³,Lee Seung-Tae⁴,Ahn Jee Young⁵,Choi Tae-Youn⁶,Lee You Kyoung¹,Kim Sun-Hee⁴,Kim Jong-Won⁴,Ki Chang-Seok⁴

Affiliation:

1. Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang Univerisity College of Medicine, Bucheon 420-767, Korea.

2. Department of Pediatrics, Soonchunhyang University Hospital, Soonchunhyang University College of Medicine, Seoul 140-743, Korea.

3. R&D Center, Equispharm Co., Ltd, Suwon 443-766, Korea.

4. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.

5. Department of Laboratory Medicine, Soonchunhyang University Gumi Hospital, Soonchunhyang Univerisity College of Medicine, Gumi 730-706, Korea.

6. Department of Laboratory Medicine, Soonchunhyang University Hospital, Soonchunhyang University College of Medicine, Seoul 140-743, Korea.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry,Molecular Biology,Molecular Medicine,Biochemistry

Reference19 articles.

1. A single origin of phenylketonuria in Yemenite Jews

2. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

3. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis

4. Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. High‐Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations;Prenatal Diagnosis;2024-08-17

2. Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing;Orphanet Journal of Rare Diseases;2023-05-26

3. The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China;Human Genomics;2023-04-25

4. Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China;Molecular Genetics & Genomic Medicine;2023-02-14

5. Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province;Frontiers in Genetics;2023-02-09