Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

作者: Juha Paloneva , Tuula Manninen , Grant Christman , Karine Hovanes , Jami Mandelin

DOI: 10.1086/342259

关键词: Receptor complexGeneGeneticsTREM2Genetic heterogeneityPhenotypeSignal transductionGene expression profilingBiologyMutation

摘要: … encodes a cell-surface receptor element that interacts with many different proteins depending on the cell … 1998b), for segregation of the marker haplotypes flanking genes that encode …

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