Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Pathway of Collagen Secretion

(2015) Vivek Malhotra et al.   Annual Review of Cell and Developmental Biology

Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies

(2015) Mouna Barat-Houari et al.   HUMAN MUTATION

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

(2010) Kristien P Hoornaert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

(2010) Allan J. Richards et al.   HUMAN MUTATION

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

(2009) M. Helen Rajpar et al.   PLoS Genetics

Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis

(2008) Vera Hintze et al.   HUMAN MUTATION