Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. CpG dinucleotides are mutation hot spots in phenylketonuria
2. A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
3. Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe
4. Cohen syndrome in the Ohio Amish
Cited by 3 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. Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish;Molecular Genetics and Metabolism Reports;2018-06
2. Mapping Genes in Isolated Populations: Lessons from the Old Order Amish;Genome Mapping and Genomics in Human and Non-Human Primates;2015
3. Hypertrophic cardiomyopathy in the Amish community — What we may learn from it;Progress in Pediatric Cardiology;2011-05
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