RGD Reference Report - Lamin a truncation in Hutchinson-Gilford progeria. - Rat Genome Database

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Lamin a truncation in Hutchinson-Gilford progeria.

Authors: De Sandre-Giovannoli, Annachiara  Bernard, Rafaëlle  Cau, Pierre  Navarro, Claire  Amiel, Jeanne  Boccaccio, Irène  Lyonnet, Stanislas  Stewart, Colin L  Munnich, Arnold  Le Merrer, Martine  Lévy, Nicolas 
Citation: De Sandre-Giovannoli A, etal., Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17.
RGD ID: 12791022
Pubmed: PMID:12702809   (View Abstract at PubMed)
DOI: DOI:10.1126/science.1084125   (Journal Full-text)

Abstract for this paper unavailable



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
LMNAHumanprogeria  IAGP DNA:silent mutation:cds:c.1824C>T (human)RGD 
LmnaRatprogeria  ISOLMNA (Homo sapiens)DNA:silent mutation:cds:c.1824C>T (human)RGD 
LmnaMouseprogeria  ISOLMNA (Homo sapiens)DNA:silent mutation:cds:c.1824C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lmna  (lamin A/C)

Genes (Mus musculus)
Lmna  (lamin A)

Genes (Homo sapiens)
LMNA  (lamin A/C)


Additional Information