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PMID: 7512859 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The gene for Darier's disease maps between D12S78 and D12S79.

Human molecular genetics ·Vol. 3 ·No. 1 ·1994-01-00 ·Pages 35-8

Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M

Abstract

Darier's disease is a dominantly inherited skin disorder in which there is abnormal adhesion between keratinocytes. We and others have recently mapped the disease gene to chromosome 12q23-q 24.1. In the present study we have established that the disease gene lies between the loci D12S78 and D12S79 which are 12cM apart. We have also obtained direct evidence that the disease is unlikely to result from a mutation in one of the members of the keratin gene cluster on chromosome 12q.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 12 DNA/blood,genetics,isolation & purification DNA, Satellite/genetics Darier Disease/genetics Deoxyribonucleases, Type II Site-Specific Female Genetic Linkage Genetic Markers Humans Keratins/genetics Male Multigene Family Pedigree Polymorphism, Restriction Fragment Length Recombination, Genetic
Chemicals
DNA, Satellite Genetic Markers Keratins DNA endodeoxyribonuclease MaeIII Deoxyribonucleases, Type II Site-Specific
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Parfitt E
Department of Psychological Medicine, University of Wales, College of Medicine, Heath Park, Cardiff, UK.
Burge S
Craddock N
Roberts E
McLean W H
Weissenbach J
McGuffin P
Owen M
Article Info
Journal
Human molecular genetics
Abbr.
Hum Mol Genet
ISSN
0964-6906
Published
1994-01-00
Pages
35-8
Language
English
Region
England
NLM ID
9208958
Subset
IM
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