Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis
Author:
Affiliation:
1. ; Department of Paediatrics; Philipps University; Marburg Germany
2. ; Department of Human Genetics; Philipps University; Marburg Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005527731397/fullpdf
Reference7 articles.
1. A single origin of phenylketonuria in Yemenite Jews;Avigad;Nature,1990
2. RFLP discordance in a PKU family due to a deletion in the PAH gene;Bosco;Turk J Pediatr,1996
3. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene;DiLella;Biochemistry,1986
4. “Broad-range” DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene;Guldberg;Nucleic Acids Res,1994
5. Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India;Guldberg;J Inher Metab Dis,1997
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