18487380

Source:http://linkedlifedata.com/resource/pubmed/id/18487380

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0008525, umls-concept:C0011053, umls-concept:C0025362, umls-concept:C0031437, umls-concept:C0039082, umls-concept:C0332281
pubmed:issue	9
pubmed:dateCreated	2008-9-3
pubmed:abstractText	To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence (FAF) in CHM carriers.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7703701
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, http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	1552-5783
pubmed:author	pubmed-author:BachMichaelM, pubmed-author:BergerWolfgangW, pubmed-author:HansenLutz LLL, pubmed-author:Kloeckener-GruissemBarbaraB, pubmed-author:PoloschekCharlotte MCM
pubmed:issnType	Electronic
pubmed:volume	49
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	4096-104
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:18487380-Adaptor Proteins, Signal Transducing, pubmed-meshheading:18487380-Choroideremia, pubmed-meshheading:18487380-Chromosomes, Human, X, pubmed-meshheading:18487380-DNA, pubmed-meshheading:18487380-DNA Primers, pubmed-meshheading:18487380-Deafness, pubmed-meshheading:18487380-Family, pubmed-meshheading:18487380-Female, pubmed-meshheading:18487380-Hearing Loss, pubmed-meshheading:18487380-Heterozygote Detection, pubmed-meshheading:18487380-Humans, pubmed-meshheading:18487380-Intellectual Disability, pubmed-meshheading:18487380-Male, pubmed-meshheading:18487380-Pedigree, pubmed-meshheading:18487380-Phenotype, pubmed-meshheading:18487380-Polymerase Chain Reaction, pubmed-meshheading:18487380-Retinitis Pigmentosa, pubmed-meshheading:18487380-Sequence Deletion, pubmed-meshheading:18487380-Syndrome
pubmed:year	2008
pubmed:articleTitle	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
pubmed:affiliation	Department of Ophthalmology, University of Freiburg, Freiburg, Germany. charlotte.poloschek@uniklinik-freiburg.de
pubmed:publicationType	Journal Article