(Q59088186)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

1 reference

DiLella AG

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

Marvit J

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

Lidsky AS

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

Güttler F

4

1 reference

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9 October 2019

Woo SL

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

language of work or name

English

0 references

publication date

1 August 1986

1 reference

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9 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

volume

322

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

issue

6082

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

9 October 2019

page(s)

799-803

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3018584%20AND%20SRC:MED&resulttype=core&format=json

Phenylketonuria: epitome of human biochemical genetics (first of two parts).

9 October 2019

cites work

1 reference

7 January 2021

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

7 January 2021

Prenatal diagnosis of classic phenylketonuria by DNA analysis

1 reference

7 January 2021

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

1 reference

7 January 2021

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1 reference

7 January 2021

Allele-specific hybridization using oligonucleotide probes of very high specific activity: discrimination of the human beta A- and beta S-globin genes

1 reference

7 January 2021

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

1 reference

7 January 2021

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

1 reference

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

7 January 2021

2 New M13 vectors for cloning

1 reference

7 January 2021