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

Author:

Desviat Lourdes R.,Pérez Belén,Ugarte Magdalena

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference15 articles.

1. Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland;Sullivan;Am J Hum Genet,1989

2. A single origin of phenylketonuria in Yemenite Jews;Avigad;Nature,1990

3. RFLP discordance in a PKU family due to a deletion in the PAH gene;Bosco;Turk J Pediatr,1996

4. Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India;Guldberg;J Inherit Metab Dis,1997

5. Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis;Zschocke;J Inherit Metab Dis,1999

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