17148043

Source:http://linkedlifedata.com/resource/pubmed/id/17148043

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0035331, umls-concept:C0332281, umls-concept:C1140710, umls-concept:C1366911, umls-concept:C1519478, umls-concept:C1537503
pubmed:issue	4
pubmed:dateCreated	2006-12-6
pubmed:abstractText	To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9436057
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/KRIT1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Microtubule-Associated Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites
pubmed:status	MEDLINE
pubmed:month	Dec
pubmed:issn	1381-6810
pubmed:author	pubmed-author:Babovic-VuksanovicDusicaD, pubmed-author:FerberMatthew JMJ, pubmed-author:HighsmithW EdwardWE, pubmed-author:KitzmannAnna SAS, pubmed-author:PulidoJose SJS
pubmed:issnType	Print
pubmed:volume	27
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	157-9
pubmed:dateRevised	2008-5-6
pubmed:meshHeading	pubmed-meshheading:17148043-Ankyrin Repeat, pubmed-meshheading:17148043-Brain Neoplasms, pubmed-meshheading:17148043-Child, pubmed-meshheading:17148043-DNA Mutational Analysis, pubmed-meshheading:17148043-Female, pubmed-meshheading:17148043-Hemangioma, Cavernous, pubmed-meshheading:17148043-Hemangioma, Cavernous, Central Nervous System, pubmed-meshheading:17148043-Humans, pubmed-meshheading:17148043-Magnetic Resonance Imaging, pubmed-meshheading:17148043-Microtubule-Associated Proteins, pubmed-meshheading:17148043-Point Mutation, pubmed-meshheading:17148043-Proto-Oncogene Proteins, pubmed-meshheading:17148043-RNA Splice Sites, pubmed-meshheading:17148043-Retinal Neoplasms
pubmed:year	2006
pubmed:articleTitle	A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
pubmed:affiliation	Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't