A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

Journal article

Peer reviewed

B E Nichols, A V Drack, K Vandenburgh, A E Kimura, V C Sheffield and E M Stone

Human molecular genetics, Vol.2(5), pp.601-603

05/1993

DOI: 10.1093/hmg/2.5.601

PMID: 8251014

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Amino Acid Sequence

Peripherins

Sequence Deletion

Fovea Centralis

Humans

Molecular Sequence Data

Male

Nerve Tissue Proteins

DNA - genetics

Macular Degeneration - genetics

DNA Mutational Analysis

Pedigree

Base Sequence

Alleles

Female

Eye Proteins - genetics

Membrane Glycoproteins

Intermediate Filament Proteins

Title: Subtitle: A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
Creators: B E Nichols - Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City 52242
A V Drack
K Vandenburgh
A E Kimura
V C Sheffield
E M Stone
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.2(5), pp.601-603
DOI: 10.1093/hmg/2.5.601
PMID: 8251014
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HG00457 / NHGRI NIH HHS P30HD27748 / NICHD NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 05/1993
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979946902771

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