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9452059
Source:
http://linkedlifedata.com/resource/pubmed/id/9452059
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58
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0024554
,
umls-concept:C0042755
,
umls-concept:C0205082
,
umls-concept:C0205314
,
umls-concept:C0599155
,
umls-concept:C0679622
,
umls-concept:C1274040
,
umls-concept:C1420331
,
umls-concept:C1457869
,
umls-concept:C1512313
,
umls-concept:C1556094
,
umls-concept:C1861922
pubmed:dateCreated
1999-6-30
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/DNA
,
http://linkedlifedata.com/resource/pubmed/chemical/High Mobility Group Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/SOX9 Transcription Factor
,
http://linkedlifedata.com/resource/pubmed/chemical/SOX9 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed-author:GojiKK
,
pubmed-author:MatsuoMM
,
pubmed-author:NishijimaEE
,
pubmed-author:NishioHH
,
pubmed-author:PokharelR KRK
,
pubmed-author:TsugawaCC
pubmed:issnType
Print
pubmed:volume
Suppl 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S114-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:9452059-Amino Acid Substitution
,
pubmed-meshheading:9452059-Base Sequence
,
pubmed-meshheading:9452059-Binding Sites
,
pubmed-meshheading:9452059-Child
,
pubmed-meshheading:9452059-DNA
,
pubmed-meshheading:9452059-DNA Mutational Analysis
,
pubmed-meshheading:9452059-Disorders of Sex Development
,
pubmed-meshheading:9452059-Exons
,
pubmed-meshheading:9452059-High Mobility Group Proteins
,
pubmed-meshheading:9452059-Humans
,
pubmed-meshheading:9452059-Japan
,
pubmed-meshheading:9452059-Male
,
pubmed-meshheading:9452059-Mutation, Missense
,
pubmed-meshheading:9452059-Osteochondrodysplasias
,
pubmed-meshheading:9452059-Point Mutation
,
pubmed-meshheading:9452059-SOX9 Transcription Factor
,
pubmed-meshheading:9452059-Transcription Factors
pubmed:year
1998
pubmed:articleTitle
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
pubmed:affiliation
Department of Endocrinology and Metabolism, Kobe Children's Hospital, Japan.
pubmed:publicationType
Journal Article
,
Case Reports