20107740

Source:http://linkedlifedata.com/resource/pubmed/id/20107740

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0013018, umls-concept:C0026882, umls-concept:C0037047, umls-concept:C0205145, umls-concept:C0265962, umls-concept:C1423506
pubmed:issue	1
pubmed:dateCreated	2010-1-28
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0370310
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Proteinase Inhibitory Proteins..., http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites, http://linkedlifedata.com/resource/pubmed/chemical/SPINK5 protein, human
pubmed:status	MEDLINE
pubmed:issn	0001-5555
pubmed:author	pubmed-author:CastigliaDanieleD, pubmed-author:CovaciuClaudiaC, pubmed-author:D'AlessioMarinaM, pubmed-author:OjalvoDavidD, pubmed-author:REYJ CJC, pubmed-author:TüysüzBeyhanB, pubmed-author:ZambrunoGiovannaG
pubmed:issnType	Print
pubmed:volume	90
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	95-6
pubmed:dateRevised	2010-5-17
pubmed:meshHeading	pubmed-meshheading:20107740-Child, pubmed-meshheading:20107740-Child, Preschool, pubmed-meshheading:20107740-DNA Mutational Analysis, pubmed-meshheading:20107740-Genetic Predisposition to Disease, pubmed-meshheading:20107740-Humans, pubmed-meshheading:20107740-Male, pubmed-meshheading:20107740-Mutation, pubmed-meshheading:20107740-Netherton Syndrome, pubmed-meshheading:20107740-Pedigree, pubmed-meshheading:20107740-Phenotype, pubmed-meshheading:20107740-Proteinase Inhibitory Proteins, Secretory, pubmed-meshheading:20107740-RNA Splice Sites, pubmed-meshheading:20107740-Skin, pubmed-meshheading:20107740-Turkey
pubmed:year	2010
pubmed:articleTitle	A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.
pubmed:publicationType	Letter, Case Reports, Research Support, Non-U.S. Gov't