18773267

Source:http://linkedlifedata.com/resource/pubmed/id/18773267

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0008525, umls-concept:C0015576, umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0037088, umls-concept:C0205314, umls-concept:C0332285, umls-concept:C0439849, umls-concept:C0445223, umls-concept:C0679622, umls-concept:C1552599, umls-concept:C1556094, umls-concept:C1704787
pubmed:issue	4
pubmed:dateCreated	2008-9-5
pubmed:abstractText	To investigate the choroideremia (CHM) gene of one affected male and one obligate carrier in a Japanese family with choroideremia, and to characterize the related clinical features.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0044652
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Adaptor Proteins, Signal Transducing, http://linkedlifedata.com/resource/pubmed/chemical/CHM protein, human, http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers, http://linkedlifedata.com/resource/pubmed/chemical/rab GTP-Binding Proteins
pubmed:status	MEDLINE
pubmed:issn	0021-5155
pubmed:author	pubmed-author:FujikiKeikoK, pubmed-author:FujimakiTakuroT, pubmed-author:IinoYutakaY, pubmed-author:MurakamiAkiraA
pubmed:issnType	Print
pubmed:volume	52
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	289-97
pubmed:meshHeading	pubmed-meshheading:18773267-Adaptor Proteins, Signal Transducing, pubmed-meshheading:18773267-Adult, pubmed-meshheading:18773267-Aged, pubmed-meshheading:18773267-Base Sequence, pubmed-meshheading:18773267-Choroideremia, pubmed-meshheading:18773267-DNA Mutational Analysis, pubmed-meshheading:18773267-DNA Primers, pubmed-meshheading:18773267-Electroretinography, pubmed-meshheading:18773267-Exons, pubmed-meshheading:18773267-Female, pubmed-meshheading:18773267-Frameshift Mutation, pubmed-meshheading:18773267-Heterozygote, pubmed-meshheading:18773267-Humans, pubmed-meshheading:18773267-Male, pubmed-meshheading:18773267-Night Blindness, pubmed-meshheading:18773267-Pedigree, pubmed-meshheading:18773267-Polymerase Chain Reaction, pubmed-meshheading:18773267-Sequence Deletion, pubmed-meshheading:18773267-Visual Acuity, pubmed-meshheading:18773267-Visual Fields, pubmed-meshheading:18773267-rab GTP-Binding Proteins
pubmed:articleTitle	A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
pubmed:affiliation	Department of Ophthalmology, Juntendo University School of Medicine, Hongo, Bunkyo-ku, Tokyo, Japan. yutaka@med.juntendo.ac.jp
pubmed:publicationType	Journal Article