(Q47397629)

15 January 2018

title

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria (English)

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15 January 2018

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3

S P Daiger

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15 January 2018

R Chakraborty

1

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15 January 2018

A S Lidsky

2

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15 January 2018

F Güttler

4

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15 January 2018

S Sullivan

5

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15 January 2018

A G Dilella

6

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15 January 2018

S L Woo

7

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15 January 2018

publication date

1 May 1987

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15 January 2018

published in

Human Genetics

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15 January 2018

volume

76

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15 January 2018

issue

1

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15 January 2018

page(s)

40-46

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15 January 2018

https://scigraph.springernature.com/pub.10.1007/bf00283048

exact match

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Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

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A study of the cause of the high incidence of phenylketonuria in Ireland and west Scotland

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Nonuniform recombination within the human beta-globin gene cluster

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Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

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Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

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Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria

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Duplication/deletion polymorphism 5′- to the human β globin gene

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Recombination hot spot in the human beta-globin gene cluster: meiotic recombination of human DNA fragments in Saccharomyces cerevisiae

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Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

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12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria

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12 December 2020

Linkage disequilibrium in finite populations

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12 December 2020

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

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Prenatal diagnosis of classic phenylketonuria by DNA analysis

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12 December 2020

Linkage disequilibrium and homozygosity of chromosome segments in finite populations

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12 December 2020

The PKU locus in man is on chromosome 12.

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12 December 2020

Gene transfer and expression of human phenylalanine hydroxylase

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12 December 2020

A strategy for using multiple linked markers for genetic counseling

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A locus on chromosome 11p with multiple restriction site polymorphisms

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Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome

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12 December 2020

The sampling distribution of linkage disequilibrium.

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12 December 2020

Sample sizes required to detect linkage disequilibrium between two or three loci

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Identifiers

DOI

10.1007/BF00283048

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15 January 2018

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15 January 2018