(Q70821085)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535444%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity (English)

1 reference

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14 October 2019

3

1 reference

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14 October 2019

Sergio Giannattasio

4

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14 October 2019

Elisabetta Riva

5

1 reference

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14 October 2019

author name string

Dianzani I

1

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14 October 2019

Knappskog PM

2

1 reference

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14 October 2019

Ponzone A

6

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14 October 2019

Apold J

7

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14 October 2019

Camaschella C

8

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14 October 2019

publication date

1 January 1995

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14 October 2019

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14 October 2019

volume

6

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14 October 2019

issue

3

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14 October 2019

page(s)

247-249

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CpG dinucleotides are mutation hot spots in phenylketonuria

14 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Full-length cDNA for rabbit tryptophan hydroxylase: functional domains and evolution of aromatic amino acid hydroxylases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Sequence and expression of the Drosophila phenylalanine hydroxylase mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Sequence comparison of rat liver phenylalanine hydroxylase and its cDNA clones

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Affinity labeling of the active site and the reactive sulfhydryl associated with activation of rat liver phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060308

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060308

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8535444%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference