About: 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

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About: 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 Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1999

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1999 (uk) im Jahr 1999 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1999 (ast) artikull shkencor i botuar më 01 janar 1999 (sq) scientific article published on 01 January 1999 (en)
publication date	wds:Q74644000-D2A023D9-DF6C-40BE-A18E-73B47F417852
publication date	1999-01-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q74644000-3120B468-8C0B-452A-9A90-94758ACBD17B wds:Q74644000-51FED692-BCB1-4EE4-89A9-FACA7A47D728 wds:Q74644000-53E76BF8-9B4F-4539-AE5A-B7FBD523CEB8 wds:Q74644000-5E7AF463-97EC-48AF-8090-9B640BF56D25 wds:Q74644000-95ABF7D1-FF22-4772-9C9F-3DC70B2C0DAC wds:Q74644000-97157024-99E5-4746-8ECA-042414C1BB5B wds:Q74644000-A0522273-9556-4072-AE74-8BCAADA4C26A wds:Q74644000-A0CDEC71-0A87-4CC2-8872-2F1DBE0F86BE wds:Q74644000-BDC2137C-88BF-4F2F-A0F9-979A2084A11F wds:Q74644000-BE070A37-F016-49D6-88C1-40CB2BCFEDD2 wds:Q74644000-D937FA47-738F-446D-BD18-7AF0A8CE70B6 wds:Q74644000-E273B509-7AC7-4118-9E52-3F7C3BAC0695 wds:Q74644000-F75D49FF-E98E-4959-A19D-927FE2C17207
author name string	F Muller B Steinmann D Gaillard R Brenner J Cousin E Mornet M Wallot J L Serre O Boute A Taillandier B Simon-Bouy P H Heidemann L Zurutuza
rdfs:label	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 (en) 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 (nl) 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 (sq)
skos:prefLabel	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 (en) 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 (nl) 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 (sq)
name	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 (en) 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 (nl) 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 (sq)
author	wds:Q74644000-7B7E1E13-9914-41D9-BEA7-637286A9BF9B
author	Lynne M Bird
title	wds:Q74644000-38ECE234-06F6-410A-9C6D-C1B7E13A646C
title	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 no. 217. Online (en)
page(s)	wds:Q74644000-39559E5D-E4A9-400A-9405-5210778DDD96
page(s)	171-172
instance of	wds:Q74644000-F60A5895-BC17-4ED3-B86A-26072E041F9D
instance of	scholarly article
PubMed ID	wds:Q74644000-48E178C1-3989-416B-B7D2-873CEEF9DBD6
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10094560
PubMed ID	10094560
published in	wds:Q74644000-755F31E3-0818-4A49-A6B4-88AD3502C698
published in	Human Mutation
issue	wds:Q74644000-E78D18B3-DC84-4CE1-BA45-25ED28497F11
volume	wds:Q74644000-58545757-0044-4213-ABF5-2B09C6230EE2
issue	2
volume	13
DOI	wds:Q74644000-8E3FCEEB-1B2F-47F1-B31F-6D3977815A05
DOI	http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:2%3C171::AID-HUMU16%3E3.0.CO;2-T
DOI	10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q74644000
is cites work of	Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Hypophosphatasia Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia? Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype. Four Novel Mutations in the ALPL Gene in Chinese patients with Odonto, Childhood and Adult Hypophosphatasia. [Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].
is cites work of	wds:Q21202964-185A09CA-A32B-4DC5-93C1-F73472E788E1 wds:Q47862490-796E3167-3EA1-4993-A3F0-EDE97E76F99C wds:Q89746388-0AAF2772-F06F-443B-894B-D2A38E2A8392 wds:Q54090345-C1CAE963-300F-4F97-ABDA-ABD74335F469 wds:Q50437988-3CA1C3BB-3385-477D-881C-2D8359620E41 wds:Q43880169-DCCD801E-D73D-40F9-B70C-DB6849930A2B wds:Q78140718-3E7C9F0E-BA37-4E27-96F2-6A5E252F3CE7 wds:Q30432249-78E3A39D-D5FB-4FEF-B839-3C4A2D6A9F46 wds:Q73356675-971EFD77-D4E8-46F2-8374-25DEFE1B294F

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