12205108

Source:http://linkedlifedata.com/resource/pubmed/id/12205108

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017963, umls-concept:C0020792, umls-concept:C0040663, umls-concept:C0152200, umls-concept:C0205314, umls-concept:C0206530, umls-concept:C0330095, umls-concept:C0679622, umls-concept:C1283195, umls-concept:C1321758, umls-concept:C1415149, umls-concept:C1704638, umls-concept:C1708726, umls-concept:C1841721, umls-concept:C2350017
pubmed:issue	9
pubmed:dateCreated	2002-9-2
pubmed:abstractText	To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/Transducin
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	1468-6244
pubmed:author	pubmed-author:AligianisI AIA, pubmed-author:ForshewTT, pubmed-author:HuntD MDM, pubmed-author:JohnsonC ACA, pubmed-author:JohnsonSS, pubmed-author:MaherE RER, pubmed-author:MichaelidesMM, pubmed-author:MooreA TAT, pubmed-author:TrembathR CRC
pubmed:issnType	Electronic
pubmed:volume	39
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	656-60
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:12205108-Amino Acid Sequence, pubmed-meshheading:12205108-Base Sequence, pubmed-meshheading:12205108-Chromosome Mapping, pubmed-meshheading:12205108-Chromosomes, Human, Pair 1, pubmed-meshheading:12205108-Color Vision Defects, pubmed-meshheading:12205108-Consanguinity, pubmed-meshheading:12205108-DNA, pubmed-meshheading:12205108-DNA Mutational Analysis, pubmed-meshheading:12205108-Family Health, pubmed-meshheading:12205108-Female, pubmed-meshheading:12205108-Genetic Linkage, pubmed-meshheading:12205108-Germ-Line Mutation, pubmed-meshheading:12205108-Humans, pubmed-meshheading:12205108-Male, pubmed-meshheading:12205108-Microsatellite Repeats, pubmed-meshheading:12205108-Molecular Sequence Data, pubmed-meshheading:12205108-Pedigree, pubmed-meshheading:12205108-Sequence Homology, Amino Acid, pubmed-meshheading:12205108-Transducin
pubmed:year	2002
pubmed:articleTitle	Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
pubmed:affiliation	Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't