Title
Protein-truncation mutations in the RP2 gene in a north american cohort of families with X-linked retinitis pigmentosa [2]
Date Issued
01 January 1999
Access level
open access
Resource Type
letter
Author(s)
Mears A.J.
Gieser L.
Yan D.
Chen C.
Fahrner S.
Hiriyanna S.
Jacobson S.G.
Sieving P.A.
Swaroop A.
University of Michigan
Publisher(s)
University of Chicago Press
Start page
897
End page
900
Volume
64
Issue
3
Language
English
OCDE Knowledge area
Oftalmología
DOI
Scopus EID
2-s2.0-0033364676
PubMed ID
Source
American Journal of Human Genetics
ISSN of the container
00029297
Sponsor(s)
We thank Drs. Sten Andreasson, David Birch, Nancy Carson, Bernie Chodirker, Mark Evans, Gerald Fishman, John Heckenlively, Dennis Hoffman, Maria Musarella, and Beth Spriggs and Mr. Eric L. Krivchenia for some of the patient samples that were included in the mutation screening. We acknowledge the assistance of Dr. Wolfgang Berger for providing the RP2 primer sequences. We thank Dr. Monika Buraczynska for organization of the patient registry; Dr. Radha Ayyagari for discussions; Dr. Beverly Yashar for counseling; Ms. Cara Coats for assistance in patient collection; Mr. Jason Cook, Ms. Patricia Forsythe, and Ms. Eve Bingham for technical assistance; and Ms. D. Giebel for secretarial assistance. This research was supported by National Institutes of Health (NIH) grants EY05627, EY06094, and EY07961 and by grants from the Foundation Fighting Blindness, the Chatlos Foundation, the Kirby Foundation, the Mackall Trust, and Research to Prevent Blindness. We also acknowledge NIH grants EY07003 (core) and M01-RR00042 (General Clinical Research Center) and a shared equipment grant from the Office of Vice President for Research (University of Michigan). A.S. is recipient of a Lew R. Wasserman Merit Award, and P.A.S., a Senior Scientific Investigator Award, both from Research to Prevent Blindness.
Sources of information:
Directorio de Producción Científica
Scopus