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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma
by
Blaydon, Diana C.
,
Lind, Lisbet K.
,
Plagnol, Vincent
,
Linton, Kenneth J.
,
Smith, Francis J.D.
,
Wilson, Neil J.
,
McLean, W.H. Irwin
,
Munro, Colin S.
,
South, Andrew P.
,
Leigh, Irene M.
,
O’Toole, Edel A.
,
Lundström, Anita
,
Kelsell, David P.
Published in
American journal of human genetics
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American Journal Of Human Genetics
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The American Journal Of Human Genetics
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Aquaporin 5 - Genetics
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Aquaporins
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Base Sequence
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Cell Membrane - Metabolism
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Epidermis - Metabolism
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Epidermis - Physiopathology
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Fluorescence
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Genes, Dominant
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Genetics & Heredity
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Humans
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Keratoderma, Palmoplantar, Diffuse - Genetics
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Keratoderma, Palmoplantar, Diffuse - Physiopathology
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Life Sciences & Biomedicine
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Membranes
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Models, Molecular
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Molecular Sequence Data
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Mutation
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Pedigree
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Protein Transport
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Proteins
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