8655156

Source:http://linkedlifedata.com/resource/pubmed/id/8655156

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0205314, umls-concept:C0295734, umls-concept:C0410189, umls-concept:C0679622, umls-concept:C1556094
pubmed:issue	5
pubmed:dateCreated	1996-7-26
pubmed:databankReference	http://linkedlifedata.com/resource/pubmed/xref/GENBANK/D64111
pubmed:abstractText	Sequencing of the STA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206-235) and generating an early stop codon.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7613873
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Thymopoietins, http://linkedlifedata.com/resource/pubmed/chemical/emerin
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	0340-6717
pubmed:author	pubmed-author:KobayashiTT, pubmed-author:YamadaTT
pubmed:issnType	Print
pubmed:volume	97
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	693-4
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:8655156-Adolescent, pubmed-meshheading:8655156-Amino Acid Sequence, pubmed-meshheading:8655156-Base Composition, pubmed-meshheading:8655156-Base Sequence, pubmed-meshheading:8655156-Child, pubmed-meshheading:8655156-DNA Primers, pubmed-meshheading:8655156-Exons, pubmed-meshheading:8655156-Humans, pubmed-meshheading:8655156-Introns, pubmed-meshheading:8655156-Japan, pubmed-meshheading:8655156-Male, pubmed-meshheading:8655156-Membrane Proteins, pubmed-meshheading:8655156-Molecular Sequence Data, pubmed-meshheading:8655156-Muscular Dystrophies, pubmed-meshheading:8655156-Nuclear Proteins, pubmed-meshheading:8655156-Polymerase Chain Reaction, pubmed-meshheading:8655156-Protein Conformation, pubmed-meshheading:8655156-Reference Values, pubmed-meshheading:8655156-Sequence Deletion, pubmed-meshheading:8655156-Thymopoietins, pubmed-meshheading:8655156-X Chromosome
pubmed:year	1996
pubmed:articleTitle	A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.
pubmed:affiliation	Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan. yamada@neuro.med.kyushu-u.ac.jp
pubmed:publicationType	Journal Article, Comparative Study