(Q28140030)

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

scientific article (publication date: 2000)

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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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issue

4

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page(s)

309-15

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cites work

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

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

retrieved

21 January 2018

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

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

retrieved

21 January 2018

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

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

retrieved

21 January 2018

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

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

retrieved

21 January 2018

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

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reference URL

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

retrieved

21 January 2018

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

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

retrieved

21 January 2018

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

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reference URL

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

retrieved

21 January 2018

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

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reference URL

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

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

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

retrieved

21 January 2018

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

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stated in

Crossref

reference URL

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

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

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

retrieved

21 January 2018

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

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reference URL

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

retrieved

21 January 2018

Correlations of genotype and phenotype in hypophosphatasia

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stated in

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reference URL

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

retrieved

21 January 2018

Identifiers

DOI

10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C

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PubMed publication ID

10737975

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(Q28140030)

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

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