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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Abstract:

Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex (EDC) on chromosome 1q21. We have identified linkage of Vohwinkel's syndrome in an extended pedigree to markers flanking the EDC region with a maximum multipoint lod score of 14.3. Sequencing of the loricrin gene revealed an insertion that shifts the translation frame of the C-terminal Gly- and Gln/Lys-rich ...

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Publication status:
Published

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Publisher copy:
10.1038/ng0596-70

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Nature genetics
Volume:
13
Issue:
1
Pages:
70-77
Publication date:
1996-05-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
35935

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