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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 |
2006-5-26
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pubmed:abstractText |
Congenital adrenal hyperplasia (CAH) shows a range of severity which is explained in part by the different mutations of the CYP21 gene. To better understand the incomplete concordance between genotype and phenotype in CAH the role of the sensitizing N363S polymorphism of the glucocorticoid receptor (GR) was examined in CAH patients.
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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:month |
Jun
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pubmed:issn |
0804-4643
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
154
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
859-64
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16728546-Adrenal Hyperplasia, Congenital,
pubmed-meshheading:16728546-Child,
pubmed-meshheading:16728546-Child, Preschool,
pubmed-meshheading:16728546-Female,
pubmed-meshheading:16728546-Genotype,
pubmed-meshheading:16728546-Heterozygote Detection,
pubmed-meshheading:16728546-Humans,
pubmed-meshheading:16728546-Infant,
pubmed-meshheading:16728546-Infant, Newborn,
pubmed-meshheading:16728546-Male,
pubmed-meshheading:16728546-Phenotype,
pubmed-meshheading:16728546-Polymerase Chain Reaction,
pubmed-meshheading:16728546-Polymorphism, Genetic,
pubmed-meshheading:16728546-Receptors, Glucocorticoid,
pubmed-meshheading:16728546-Steroid 21-Hydroxylase
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pubmed:year |
2006
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pubmed:articleTitle |
Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency.
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pubmed:affiliation |
2nd Department of Paediatrics, Semmelweis University, Faculty of Medicine, Hungary.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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