Source:http://linkedlifedata.com/resource/pubmed/id/10679946
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
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| pubmed:dateCreated |
2000-3-7
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| pubmed:abstractText |
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 12 families affected by severe or mild hypophosphatasia. Twenty distinct mutations were found, 5 of which were previously reported. Nine of the 15 new mutations were missense mutations (T117N, A159T, R229S, A331T, H364R, D389G, R433H, N461I, and C472S). The others were 2 nonsense mutations (L-12X and E274X), one single nucleotide deletion (1256delC), 2 mutations affecting splicing (298-2A>G, 997+2T>A), and a mutation in the major transcription start site (-195C>T). Hum Mutat 15:293, 2000.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Mar
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| pubmed:issn |
1098-1004
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| pubmed:author |
pubmed-author:BiethEE,
pubmed-author:BonninEE,
pubmed-author:BrennerRR,
pubmed-author:CordierM PMP,
pubmed-author:CozienEE,
pubmed-author:De BieSS,
pubmed-author:FellmannFF,
pubmed-author:FreisingerPP,
pubmed-author:FribourgCC,
pubmed-author:HennekamR CRC,
pubmed-author:HesseVV,
pubmed-author:JosifovaDD,
pubmed-author:Kerzin-StorrarLL,
pubmed-author:LeporrierNN,
pubmed-author:MerrienYY,
pubmed-author:MornetEE,
pubmed-author:MullerFF,
pubmed-author:SerreJ LJL,
pubmed-author:Simon-BouyBB,
pubmed-author:TaillandierAA,
pubmed-author:ZabotM TMT
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| pubmed:copyrightInfo |
Copyright 2000 Wiley-Liss, Inc.
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| pubmed:issnType |
Electronic
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| pubmed:volume |
15
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
293
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| pubmed:dateRevised |
2004-11-17
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| pubmed:meshHeading |
pubmed-meshheading:10679946-Alkaline Phosphatase,
pubmed-meshheading:10679946-Child,
pubmed-meshheading:10679946-Female,
pubmed-meshheading:10679946-Humans,
pubmed-meshheading:10679946-Hypophosphatasia,
pubmed-meshheading:10679946-Infant,
pubmed-meshheading:10679946-Male,
pubmed-meshheading:10679946-Mutation,
pubmed-meshheading:10679946-Mutation, Missense,
pubmed-meshheading:10679946-Polymerase Chain Reaction,
pubmed-meshheading:10679946-Polymorphism, Single-Stranded Conformational
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| pubmed:year |
2000
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| pubmed:articleTitle |
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
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| pubmed:affiliation |
Centre d'Etudes de Biologie Prénatale-SESEP, Université de Versailles, Versailles, France.
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| pubmed:publicationType |
Journal Article
|