Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M. Stone, Andrew Lotery, Francis L. Munier et al. · Nature Genetics · 1999 · 495 citations

Medicine, Genetics, Molecular Genetics +16

Clinical and molecular genetics of Stickler syndrome

Martin P. Snead, John R.W. Yates · Journal of Medical Genetics · 1999 · 456 citations · Full text

Medicine, Ophthalmology, Human Genetics +13

Alternatively spliced type II procollagen mRNAs define distinct populations of cells during vertebral development: differential expression of the amino-propeptide.

Linda J. Sandell, Nicholas J. Morris, Jennifer Robbins et al. · The Journal of Cell Biology · 1991 · 341 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +14

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

Allan J. Richards · British Journal of Ophthalmology · 2000 · 135 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix

Allan J. Richards, David Baguley, John R.W. Yates et al. · The American Journal of Human Genetics · 2000 · 113 citations · Full text

Medicine, Genetics, Molecular Genetics +12