(Q41677673)

7 October 2017

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations (English)

1 reference

7 October 2017

0 references

1 reference

Kalaydjieva L

1

1 reference

7 October 2017

Dworniczak B

2

1 reference

7 October 2017

Aulehla-Scholz C

3

1 reference

7 October 2017

Kremensky I

4

1 reference

7 October 2017

Bronzova J

5

1 reference

7 October 2017

Eigel A

6

1 reference

7 October 2017

Horst J

7

1 reference

7 October 2017

language of work or name

English

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publication date

1 December 1990

1 reference

Journal of Medical Genetics

7 October 2017

1 reference

7 October 2017

27

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7 October 2017

12

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7 October 2017

742-745

1 reference

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

7 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017277

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

18 August 2018

1 reference

12 December 2020

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

1 reference

12 December 2020

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.27.12.742

1 reference

7 October 2017

1 reference

7 October 2017

PubMed publication ID

1981599

1 reference