Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with stickler syndrome (hereditary arthro-ophthalmopathy)

TY - JOUR

T1 - Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with stickler syndrome (hereditary arthro-ophthalmopathy)

AU - Brown, David M.

AU - Vandenburgh, Kim

AU - Kimura, Alan E.

AU - Weingeist, Thomas A.

AU - Sheffield, Val C.

AU - Stone, Edwin M.

N1 - Funding Information: Dr Brown is the 1993-1994 Ronald G.Michels Foundation Fellow and a Thomas Heed Foundation Fellow at the University of Iowa. Dr Stone is a 'Research to Prevent Blindness' Dolly Green Scholar. This work was supported in part by the Knight's Templer Eye Foundation (Springfield, IL); National Retinitis Pigmenlosa Foundation Fighting Blindness (Bethesda, MD); the George Gund Foundation (New York, N.Y.); the C.S.O'Brien Center for Macular Diseases (Iowa City, I A); the Roy Carver Charitable Trust (Muscatine, IA); Public Health Service Research grant EY10539 (Bethesda, MD); and an unrestricted grant from Research to Prevent Blindness (New York, N.Y.). Presented in part at the American Academy of Human Genetics meeting, New Orleans, LA, October 1993, and the Association for Research in Vision and Ophthalmology meeting, Sarasota, FL, May 1994.

PY - 1995/1

Y1 - 1995/1

UR - http://www.scopus.com/inward/record.url?scp=0028796139&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028796139&partnerID=8YFLogxK

U2 - 10.1093/hmg/4.1.141

DO - 10.1093/hmg/4.1.141

M3 - Article

C2 - 7711727

AN - SCOPUS:0028796139

SN - 0964-6906

VL - 4

SP - 141

EP - 142

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 1

ER -