(Q41175047)

27 September 2017

title

Two mutations within the coding sequence of the phenylalanine hydroxylase gene (English)

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27 September 2017

E Svensson

1

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27 September 2017

B Andersson

series ordinal

2

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27 September 2017

L Hagenfeldt

series ordinal

3

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27 September 2017

publication date

1 August 1990

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27 September 2017

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27 September 2017

volume

85

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27 September 2017

issue

3

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27 September 2017

page(s)

300-304

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Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

27 September 2017

cites work

1 reference

12 December 2020

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

12 December 2020

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations of factor VIII cleavage sites in hemophilia A.

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA

1 reference

12 December 2020

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Deletion mapping in human renal cell carcinoma

1 reference

12 December 2020

Direct identification of sickle cell anemia by blot hybridization

1 reference

12 December 2020

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

12 December 2020

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

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12 December 2020

Mendelian hyperphenylalaninemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene

1 reference

12 December 2020

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

1 reference

12 December 2020

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria

1 reference

12 December 2020

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00206750

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Dimensions Publication ID

27 September 2017

1012265112

0 references

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