Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

Author:

Schwoerer Jessica Scott,Drilias Nicoletta,Kuhl AshleyORCID,Mochal Sean,Baker Mei

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference15 articles.

1. Phenylalanine hydroxylase deficiency;Regier,1993

2. Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements;Wang;Am. J. Med. Genet.,2007

3. Genetic heritage of older order Mennonites of southeastern Pennsylvania;Puffenberger;Am. J. Med. Genet. Part C,2003

4. CpG dinucleotides are mutation hot spots in phenylketonuria;Abadie;Genomics,1989

5. A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria;Callaud;J. Biol. Chem.,2010

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