(Q44375034)

2 December 2017

title

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

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2 December 2017

Mary Gable

1

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2 December 2017

Margaret Williams

2

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2 December 2017

Anne Stephenson

3

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2 December 2017

Yoshiyuki Okano

4

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2 December 2017

Susan Ring

5

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2 December 2017

Melanie Hurtubise

6

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2 December 2017

Linda Tyfield

7

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2 December 2017

publication date

1 April 2003

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2 December 2017

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2 December 2017

volume

21

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2 December 2017

issue

4

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2 December 2017

page(s)

379-386

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Measurement of locus copy number by hybridisation with amplifiable probes

2 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

A single origin of phenylketonuria in Yemenite Jews

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

PAHdb: a locus-specific knowledgebase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10199

7 January 2021

Identifiers

DOI

10.1002/HUMU.10199

1 reference

2 December 2017

1 reference