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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2002-2-8
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pubmed:abstractText |
Hypophosphatasia (HOPS) is an inheritable disorder characterized by defective skeletal mineralization, deficiency of tissue-non-specific alkaline phosphatase (TNSALP) activity and premature loss of deciduous teeth. The gene for TNSALP is located on chromosome 1p34-36.1 and consists of 12 exons and 11 introns. In this study we analysed the genomic TNSALP gene from a patient with HOPS, her family, and unrelated normal controls.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
D
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1354-523X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
331-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11834095-Alanine,
pubmed-meshheading:11834095-Alkaline Phosphatase,
pubmed-meshheading:11834095-Alleles,
pubmed-meshheading:11834095-Alveolar Bone Loss,
pubmed-meshheading:11834095-Chromosomes, Human, Pair 1,
pubmed-meshheading:11834095-Cytosine,
pubmed-meshheading:11834095-Ethanolamines,
pubmed-meshheading:11834095-Exons,
pubmed-meshheading:11834095-Female,
pubmed-meshheading:11834095-Genes, Dominant,
pubmed-meshheading:11834095-Humans,
pubmed-meshheading:11834095-Hypophosphatasia,
pubmed-meshheading:11834095-Introns,
pubmed-meshheading:11834095-Middle Aged,
pubmed-meshheading:11834095-Mutation, Missense,
pubmed-meshheading:11834095-Pedigree,
pubmed-meshheading:11834095-Periodontitis,
pubmed-meshheading:11834095-Point Mutation,
pubmed-meshheading:11834095-Polymerase Chain Reaction,
pubmed-meshheading:11834095-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11834095-Thymine,
pubmed-meshheading:11834095-Valine
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pubmed:year |
2001
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pubmed:articleTitle |
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
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pubmed:affiliation |
Department of Hard Tissue Engineering (Periodontology), Graduate School, Tokyo Medical and Dental University, Yushima, Japan. watanabe.peri@tmd.ac.jp
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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