(Q43880169)

27 November 2017

title

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia (English)

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27 November 2017

0 references

Watanabe H

1

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27 November 2017

Hashimoto-Uoshima M

2

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27 November 2017

Goseki-Sone M

3

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27 November 2017

Orimo H

4

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27 November 2017

Ishikawa I

5

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27 November 2017

publication date

1 November 2001

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27 November 2017

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27 November 2017

volume

7

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27 November 2017

issue

6

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27 November 2017

page(s)

331-335

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Hypophosphatasia and the Extracellular Metabolism of Inorganic Pyrophosphate: Clinical and Laboratory Aspects: Part I

27 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

Correlations of genotype and phenotype in hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

Structure of alkaline phosphatases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

Absence of adult dental anomalies in familial hypophosphatasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief n

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia. A case report

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

Molecular diagnosis of hypophosphatasia with severe periodontitis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1601-0825.2001.00740.X

7 January 2021

10.1034/J.1601-0825.2001.00740.X

Identifiers

DOI

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27 November 2017

1 reference