14676460

Source:http://linkedlifedata.com/resource/pubmed/id/14676460

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0205314, umls-concept:C0679622, umls-concept:C0852654, umls-concept:C1556094
pubmed:issue	3
pubmed:dateCreated	2004-3-9
pubmed:abstractText	This study analyzed the mutation of 21-hydroxylase deficiency (21-OHD) in 36 unrelated Japanese patients with congenital adrenal hyperplasia (CAH).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0366126
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Adrenocorticotropic Hormone, http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers, http://linkedlifedata.com/resource/pubmed/chemical/Renin, http://linkedlifedata.com/resource/pubmed/chemical/Steroid 21-Hydroxylase
pubmed:status	MEDLINE
pubmed:issn	0301-0163
pubmed:author	pubmed-author:IkunoNorikoN, pubmed-author:KajiMasayukiM, pubmed-author:KuzuyaHideshiH, pubmed-author:NishishoKahoruK, pubmed-author:ShimatsuAkiraA, pubmed-author:UsuiTakeshiT, pubmed-author:YasudaToshiyukiT, pubmed-author:YorifujiTohruT
pubmed:copyrightInfo	Copyright 2004 S. Karger AG, Basel
pubmed:issnType	Print
pubmed:volume	61
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	126-32
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:14676460-Adrenal Hyperplasia, Congenital, pubmed-meshheading:14676460-Adrenocorticotropic Hormone, pubmed-meshheading:14676460-Alleles, pubmed-meshheading:14676460-Amino Acid Substitution, pubmed-meshheading:14676460-Base Sequence, pubmed-meshheading:14676460-DNA Primers, pubmed-meshheading:14676460-Exons, pubmed-meshheading:14676460-Female, pubmed-meshheading:14676460-Humans, pubmed-meshheading:14676460-Japan, pubmed-meshheading:14676460-Male, pubmed-meshheading:14676460-Mutation, pubmed-meshheading:14676460-Mutation, Missense, pubmed-meshheading:14676460-Pedigree, pubmed-meshheading:14676460-Polymerase Chain Reaction, pubmed-meshheading:14676460-Renin, pubmed-meshheading:14676460-Sequence Deletion, pubmed-meshheading:14676460-Steroid 21-Hydroxylase
pubmed:year	2004
pubmed:articleTitle	Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
pubmed:affiliation	Clinical Research Institute, Center for Endocrine and Metabolic Disease, Kyoto National Hospital, Kyoto, Japan. tusui@kyotolan.hosp.go.jp
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't