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Title:
HAPLOTYPES OF THE RLBP1 GENE
Document Type and Number:
WIPO Patent Application WO2001092278
Kind Code:
A3
Abstract:
Novel genetic variants of the Retinaldehyde-Binding Protein 1 (RLBP1) gene are described. Various genotypes, haplotypes, and haplotype pairs that exist in the general United States population are disclosed for the RLBP1 gene. Compositions and methods for haplotyping and/or genotyping the RLBP1 gene in an individual are also disclosed. Polynucleotides defined by the sequence of the haplotypes disclosed herein are also described.

Inventors:
CHOI JULIE Y (US)
KAZEMI AMIR (US)
KOSHY BEENA (US)
Application Number:
PCT/US2001/017252
Publication Date:
April 04, 2002
Filing Date:
May 29, 2001
Export Citation:
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Assignee:
GENAISSANCE PHARMACEUTICALS (US)
CHOI JULIE Y (US)
KAZEMI AMIR (US)
KOSHY BEENA (US)
International Classes:
C07K14/47; C12Q1/68; C12Q1/6876; (IPC1-7): C07H21/04; C12Q1/68
Other References:
INTRES ET AL.: "Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein", J. OF BIOL. CHEM., vol. 269, no. 41, October 1994 (1994-10-01), pages 25411 - 25418, XP002906064
COTRAN ET AL.: "Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA", EXP. EYE RES., vol. 51, 1990, pages 15 - 19, XP002906063
MAW ET AL.: "Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa", NATURE GENETICS, vol. 17, October 1997 (1997-10-01), pages 198 - 200, XP002906062
MORIMURA ET AL.: "Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens", IOVS, vol. 40, no. 5, April 1999 (1999-04-01), pages 1000 - 1004, XP002906061
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