|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2011-2-8
|
|
pubmed:abstractText |
X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1365-2265
|
|
pubmed:author |
|
|
pubmed:copyrightInfo |
© 2011 Blackwell Publishing Ltd.
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
74
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
312-8
|
|
pubmed:dateRevised |
2011-9-26
|
|
pubmed:meshHeading |
pubmed-meshheading:21050253-Cohort Studies,
pubmed-meshheading:21050253-DNA Mutational Analysis,
pubmed-meshheading:21050253-Extracellular Matrix Proteins,
pubmed-meshheading:21050253-Family Health,
pubmed-meshheading:21050253-Female,
pubmed-meshheading:21050253-Fibroblast Growth Factors,
pubmed-meshheading:21050253-Genetic Testing,
pubmed-meshheading:21050253-Humans,
pubmed-meshheading:21050253-Hypophosphatemic Rickets, X-Linked Dominant,
pubmed-meshheading:21050253-Male,
pubmed-meshheading:21050253-Mutation,
pubmed-meshheading:21050253-Mutation, Missense,
pubmed-meshheading:21050253-PHEX Phosphate Regulating Neutral Endopeptidase,
pubmed-meshheading:21050253-Phosphoproteins,
pubmed-meshheading:21050253-Polymorphism, Single Nucleotide
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
|
|
pubmed:affiliation |
Department of Medicine, University of Texas Health Science Center at Houston, TX 77030, USA. mary.ruppe@uth.tmc.edu
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
