(Q81367437)

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Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations

scientific article published on 19 December 2004

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

hypophosphatasia

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Isabelle Brun-Heath

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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Agnes Taillandier

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Jean-Louis Serre

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Etienne Mornet

4

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Europe PubMed Central

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8 January 2020

publication date

19 December 2004

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8 January 2020

Molecular Genetics and Metabolism

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

84

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

3

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8 January 2020

273-277

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

Correlations of genotype and phenotype in hypophosphatasia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

Kinetic characterization of hypophosphatasia mutations with physiological substrates

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

Gly429 is the major determinant of uncompetitive inhibition of human germ cell alkaline phosphatase by L-leucine

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

A molecular approach to dominance in hypophosphatasia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.003

7 January 2021

Identifiers

10.1016/J.YMGME.2004.11.003

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15694177%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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