Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene (Q28140030)

Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.

Europe PubMed Central

title

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene (English)

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E Mornet

1

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language of work or name

English

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publication date

2000

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published in

Human Mutation

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volume

15

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page(s)

309-15

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issue

4

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200004%2915%3A4%3C309%3A%3AAID-HUMU2%3E3.0.CO%3B2-C

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

21 January 2018

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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

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Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form

21 January 2018

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Characterization of a 5'-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene

21 January 2018

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

21 January 2018

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

21 January 2018

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Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification

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Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

21 January 2018

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

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

21 January 2018

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Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred

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Correlations of genotype and phenotype in hypophosphatasia

21 January 2018

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