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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 |
2009-12-4
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pubmed:abstractText |
Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia are well-recognized allelic autosomal dominant and recessive progeroid disorders, respectively, due to mutations in lamin A/C (LMNA) gene. Heterozygous LMNA mutations have also been reported in a small number of patients with a less well-characterized atypical progeroid syndrome (APS).
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pubmed:grant |
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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 |
Dec
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pubmed:issn |
1945-7197
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4971-83
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pubmed:dateRevised |
2011-3-3
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pubmed:meshHeading |
pubmed-meshheading:19875478-Absorptiometry, Photon,
pubmed-meshheading:19875478-Adult,
pubmed-meshheading:19875478-Anthropometry,
pubmed-meshheading:19875478-Body Composition,
pubmed-meshheading:19875478-Body Height,
pubmed-meshheading:19875478-Child,
pubmed-meshheading:19875478-Cockayne Syndrome,
pubmed-meshheading:19875478-DNA Mutational Analysis,
pubmed-meshheading:19875478-Female,
pubmed-meshheading:19875478-Fibroblasts,
pubmed-meshheading:19875478-Glucose Tolerance Test,
pubmed-meshheading:19875478-Hand,
pubmed-meshheading:19875478-Humans,
pubmed-meshheading:19875478-Lamin Type A,
pubmed-meshheading:19875478-Magnetic Resonance Imaging,
pubmed-meshheading:19875478-Male,
pubmed-meshheading:19875478-Microscopy, Fluorescence,
pubmed-meshheading:19875478-Middle Aged,
pubmed-meshheading:19875478-Mutation, Missense,
pubmed-meshheading:19875478-Pedigree,
pubmed-meshheading:19875478-Phenotype,
pubmed-meshheading:19875478-Progeria,
pubmed-meshheading:19875478-Skin,
pubmed-meshheading:19875478-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
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pubmed:affiliation |
Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Boulevard, Dallas, Texas 75390-8537, USA. abhimanyu.garg@utsouthwestern.edu
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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