(Q45861994)

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Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

scientific article published on 22 August 2006

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29 December 2019

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement (English)

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29 December 2019

Dagmar Procházková

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29 December 2019

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Libor Kozak

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29 December 2019

Eva Hrabincova

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29 December 2019

Jaromir Kintr

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29 December 2019

Ondrej Horky

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29 December 2019

Petra Zapletalova

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29 December 2019

Ivona Blahakova

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29 December 2019

Pavel Mejstrik

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22 August 2006

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29 December 2019

Molecular Genetics and Metabolism

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29 December 2019

89

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29 December 2019

4

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29 December 2019

300-309

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29 December 2019

PAHdb 2003: what a locus-specific knowledgebase can do.

1 reference

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7 January 2021

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

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Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts

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Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India

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Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis

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Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene

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A single origin of phenylketonuria in Yemenite Jews

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

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.

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Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.

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Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia

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Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

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Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

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Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

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Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

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Phenylketonuria mutations in Europe

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Phenylketonuria mutations in Northern China

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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

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Alu repeats and human disease

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Alu repeats and human genomic diversity

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Large genomic deletions inactivate the BRCA2 gene in breast cancer families

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Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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Analysis of 22 deletion breakpoints in dystrophin intron 49.

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Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

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Identifiers

10.1016/J.YMGME.2006.06.007

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29 December 2019

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29 December 2019

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