(Q83000694)

English

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

scientific article published on 23 December 2010

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

hypophosphatasia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Atsushi Watanabe

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Tatsuki Karasugi

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Banyar Than Naing

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Shiro Ikegawa

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Takashi Shimada

7

1 reference

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18 January 2020

publication date

23 December 2010

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

56

1 reference

Europe PubMed Central

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18 January 2020

2

1 reference

Europe PubMed Central

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18 January 2020

166-168

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Europe PubMed Central

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18 January 2020

https://scigraph.springernature.com/pub.10.1038/jhg.2010.161

0 references

Hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Specific ultrasonographic features of perinatal lethal hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide association study of hematological and biochemical traits in a Japanese population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

High-resolution melting analysis (HRMA): more than just sequence variant screening.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Early prenatal sonographic diagnosis of congenital hypophosphatasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.161

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2010.161

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 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:21179104%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

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