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‘ERAD'icating Mislocalized Proteins in an Acromesomelic Dwarfism Disorder
Author(s) -
Kang MH
Publication year - 2009
Publication title -
clinical genetics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01199_2.x
Subject(s) - missense mutation , dwarfism , biology , endoplasmic reticulum associated protein degradation , genetics , mutant , mutation , microbiology and biotechnology , gene , unfolded protein response
Defective cellular trafficking of missense NPR‐B mutants is the major mechanism underlying acromesomelic dysplasia‐type Maroteaux Hume et al. (2009) Human Molecular Genetics 18: 267–277