Article
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.
Human mutation - 1 Apr 2009
Deuquet Julie, Abrami Laurence, Difeo Analisa, Ramirez Maria Celeste M, Martignetti John A, van der Goot F Gisou
Abstract excerpt
Systemic hyalinosis is an autosomal recessive disease that encompasses two allelic syndromes, infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), which are caused by mutations in the CMG2 gene. Here we have analyzed the cellular consequences of five patient-derived point mutations in the extracellular von Willebrand domain or the transmembrane domain of the CMG2 protein. We found that...
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