Source:http://linkedlifedata.com/resource/pubmed/id/17993777
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
2007-11-12
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
1720-8386
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
30
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
806-7
|
| pubmed:meshHeading |
pubmed-meshheading:17993777-Adrenal Hyperplasia, Congenital,
pubmed-meshheading:17993777-Codon, Nonsense,
pubmed-meshheading:17993777-Female,
pubmed-meshheading:17993777-Heterozygote,
pubmed-meshheading:17993777-Humans,
pubmed-meshheading:17993777-Infant, Newborn,
pubmed-meshheading:17993777-Phenotype,
pubmed-meshheading:17993777-Steroid 21-Hydroxylase
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
|
| pubmed:publicationType |
Letter,
Case Reports
|