(Q47862490)

English

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

scientific article published on 20 January 2005

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scholarly article

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

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

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

hypophosphatasia

0 references

author name string

Toshimi Michigami

1

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

Takayuki Uchihashi

2

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

Akira Suzuki

3

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

Kanako Tachikawa

4

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

Shigeo Nakajima

5

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

Keiichi Ozono

6

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

publication date

20 January 2005

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

European Journal of Pediatrics

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

164

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

5

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

277-282

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

https://scigraph.springernature.com/pub.10.1007/s00431-004-1612-9

0 references

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The quantitative histochemistry of brain. II. Enzyme measurements.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe cleidocranial dysplasia can mimic hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlations of genotype and phenotype in hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marrow cell transplantation for infantile hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular approach to dominance in hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15660230

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-004-1612-9

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

1 reference

Europe PubMed Central

6 February 2018

http://europepmc.org/abstract/MED/15660230

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