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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2007-9-18
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pubmed:abstractText |
Mutations in the LMNA gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle, but no clear genotype/phenotype correlation could be established to date.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:BenedettiSS,
pubmed-author:BerardinelliAA,
pubmed-author:BertiniEE,
pubmed-author:BonneGG,
pubmed-author:CaldaraRR,
pubmed-author:CarreraPP,
pubmed-author:ComiGG,
pubmed-author:D'AmicoAA,
pubmed-author:DeganiGG,
pubmed-author:FazioRR,
pubmed-author:FerrariMM,
pubmed-author:GalluzziGG,
pubmed-author:MammìII,
pubmed-author:MendittoII,
pubmed-author:MerliniLL,
pubmed-author:MorandiLL,
pubmed-author:MoroniII,
pubmed-author:OlivèMM,
pubmed-author:PEAKH JHJ,
pubmed-author:PalmucciLL,
pubmed-author:PegoraroEE,
pubmed-author:PrevitaliS CSC,
pubmed-author:QuattriniAA,
pubmed-author:RodolicoCC,
pubmed-author:TonioloDD,
pubmed-author:ToscanoAA,
pubmed-author:TrevisanC PCP
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pubmed:issnType |
Electronic
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pubmed:day |
18
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pubmed:volume |
69
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1285-92
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pubmed:meshHeading |
pubmed-meshheading:17377071-Adult,
pubmed-meshheading:17377071-Age of Onset,
pubmed-meshheading:17377071-Child,
pubmed-meshheading:17377071-Child, Preschool,
pubmed-meshheading:17377071-Cluster Analysis,
pubmed-meshheading:17377071-Cohort Studies,
pubmed-meshheading:17377071-DNA Mutational Analysis,
pubmed-meshheading:17377071-Disease Progression,
pubmed-meshheading:17377071-Frameshift Mutation,
pubmed-meshheading:17377071-Genetic Markers,
pubmed-meshheading:17377071-Genetic Predisposition to Disease,
pubmed-meshheading:17377071-Haplotypes,
pubmed-meshheading:17377071-Heart Diseases,
pubmed-meshheading:17377071-Humans,
pubmed-meshheading:17377071-Lamin Type A,
pubmed-meshheading:17377071-Lamins,
pubmed-meshheading:17377071-Muscle, Skeletal,
pubmed-meshheading:17377071-Mutation,
pubmed-meshheading:17377071-Mutation, Missense,
pubmed-meshheading:17377071-Myocardium,
pubmed-meshheading:17377071-Neuromuscular Diseases,
pubmed-meshheading:17377071-Phenotype
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pubmed:year |
2007
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pubmed:articleTitle |
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
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pubmed:affiliation |
Laboratory of Clinical Molecular Biology DIBIT 2, Diagnostics and Research San Raffaele, Milan, Italy. benedetti.sara@hsr.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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