17960121

Source:http://linkedlifedata.com/resource/pubmed/id/17960121

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0078918, umls-concept:C0079411, umls-concept:C0796357, umls-concept:C1253959
pubmed:dateCreated	2007-10-25
pubmed:abstractText	To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Membrane Transport Proteins, http://linkedlifedata.com/resource/pubmed/chemical/OCA2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Melanocortin, Type 1
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:ForsterHedwigH, pubmed-author:LorenzBirgitB, pubmed-author:PlompAstrid SAS, pubmed-author:PreisingMarkus NMN, pubmed-author:TapJJ, pubmed-author:de JongPaulus T V MPT
pubmed:issnType	Electronic
pubmed:volume	13
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1851-5
pubmed:meshHeading	pubmed-meshheading:17960121-Adolescent, pubmed-meshheading:17960121-Adult, pubmed-meshheading:17960121-Aged, pubmed-meshheading:17960121-Albinism, Oculocutaneous, pubmed-meshheading:17960121-DNA Mutational Analysis, pubmed-meshheading:17960121-Female, pubmed-meshheading:17960121-Fundus Oculi, pubmed-meshheading:17960121-Hair Color, pubmed-meshheading:17960121-Heterozygote, pubmed-meshheading:17960121-Humans, pubmed-meshheading:17960121-Iris, pubmed-meshheading:17960121-Male, pubmed-meshheading:17960121-Membrane Transport Proteins, pubmed-meshheading:17960121-Middle Aged, pubmed-meshheading:17960121-Mutation, Missense, pubmed-meshheading:17960121-Pedigree, pubmed-meshheading:17960121-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:17960121-Receptor, Melanocortin, Type 1, pubmed-meshheading:17960121-Skin Pigmentation
pubmed:year	2007
pubmed:articleTitle	Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
pubmed:affiliation	Regensburg University Medical Center, Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics, Franz Josef Strauss, Regensburg, Germany. mpreising@arcor.de
pubmed:publicationType	Journal Article