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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2010-10-26
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pubmed:abstractText |
X-linked hypophosphatemia (XLH) is characterized by renal phosphate wasting with hypophosphatemia, short stature, and rachitic manifestations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1660-2137
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2010 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
116
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
p17-21
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pubmed:meshHeading |
pubmed-meshheading:20664300-Adult,
pubmed-meshheading:20664300-Codon, Nonsense,
pubmed-meshheading:20664300-DNA Mutational Analysis,
pubmed-meshheading:20664300-Exons,
pubmed-meshheading:20664300-Female,
pubmed-meshheading:20664300-Genetic Predisposition to Disease,
pubmed-meshheading:20664300-Heredity,
pubmed-meshheading:20664300-Humans,
pubmed-meshheading:20664300-Hypophosphatemic Rickets, X-Linked Dominant,
pubmed-meshheading:20664300-India,
pubmed-meshheading:20664300-PHEX Phosphate Regulating Neutral Endopeptidase,
pubmed-meshheading:20664300-Pedigree,
pubmed-meshheading:20664300-Phenotype,
pubmed-meshheading:20664300-Singapore,
pubmed-meshheading:20664300-Vitamin D Deficiency
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pubmed:year |
2010
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pubmed:articleTitle |
Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
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pubmed:affiliation |
Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore. manju.chandran @ sgh.com.sg
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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