Linked Life Data

16435223

Source:http://linkedlifedata.com/resource/pubmed/id/16435223

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2006-1-25
pubmed:abstractText
We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1175-8
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
pubmed:affiliation
Metabolic Unit, Department of Pediatrics, University of Florence, Florence, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't