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Article

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

American journal of human genetics - 7 Oct 2011

Blaydon Diana C, Nitoiu Daniela, Eckl Katja-Martina, Cabral Rita M, Bland Philip, Hausser Ingrid, van Heel David A, Rajpopat Shefali, Fischer Judith, Oji Vinzenz, Zvulunov Alex, Traupe Heiko, Hennies Hans Christian, Kelsell David P

Abstract excerpt

Autosomal-recessive exfoliative ichthyosis presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of nonerythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21944047
DOI: 10.1016/j.ajhg.2011.09.001
PMCID: PMC3188842

Genes

CSTA

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Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.PMID 21944047Read ↗

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