RGD Reference Report - SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy. - Rat Genome Database

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SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

Authors: Lamireau, Thierry  Olschwang, Sylviane  Rooryck, Caroline  Le Bail, Brigitte  Chateil, Jean-François  Lacombe, Didier 
Citation: Lamireau T, etal., J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20.
RGD ID: 12880041
Pubmed: PMID:15990641   (View Abstract at PubMed)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Acro-Osteolysis  IAGP 12880041associated with Juvenile Polyposis Syndrome and DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human)RGD 
Acro-Osteolysis  ISOSMAD4 (Homo sapiens)12880041; 12880041associated with Juvenile Polyposis Syndrome and DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Smad4  (SMAD family member 4)

Genes (Mus musculus)
Smad4  (SMAD family member 4)

Genes (Homo sapiens)
SMAD4  (SMAD family member 4)


Additional Information