Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype
Top Cited Papers
- 1 September 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 71 (3) , 656-662
- https://doi.org/10.1086/342259
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish backgroundClinical Genetics, 2008
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyHuman Genetics, 2002
- A Susceptibility Locus for Migraine with Aura, on Chromosome 4q24American Journal of Human Genetics, 2002
- A Dap12-Mediated Pathway Regulates Expression of Cc Chemokine Receptor 7 and Maturation of Human Dendritic CellsThe Journal of Experimental Medicine, 2001
- Cloning and characterization of a novel mouse myeloid DAP12-associated receptor familyEuropean Journal of Immunology, 2001
- Osteoprotegerin inhibits in vitro mouse osteoclast formation induced by joint fluid from failed total hip arthroplastyJournal of Biomedical Materials Research, 2001
- Fine-Scale Mapping of a Novel Dementia Gene, PLOSL, by Linkage DisequilibriumGenomics, 1998
- Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13American Journal of Human Genetics, 1998
- Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyActa Neurologica Scandinavica, 1993
- Neurophysiological findings in the hereditary presenile dementia characterised by polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy.Journal of Neurology, Neurosurgery & Psychiatry, 1983