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

Juha Paloneva(University of Helsinki), Tuula Manninen(University of California, Los Angeles), Grant P. Christman(University of California, Los Angeles), Karine Hovanes(University of California, Los Angeles), Jami Mandelin(University of Helsinki), Rolf Adolfsson(Umeå University), Marino Muxfeldt Bianchin(Hospital Regional de São José Dr. Homero de Miranda Gomes), Thomas D. Bird(University of Washington Medical Center), Roxana Miranda(Clinica Santa Maria), Andrea Salmaggi(Fondazione IRCCS Istituto Neurologico Carlo Besta), Lisbeth Tranebjærg(University Hospital of North Norway), Yrjö T. Konttinen(Invalidisäätiö), Leena Peltonen(University of Helsinki)
The American Journal of Human Genetics
September 1, 2002
Cited by 696Open Access
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