Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
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概要
- 論文の詳細を見る
- 2007-03-01
著者
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Wajid Muhammad
Department Of Dermatology Columbia University
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Christiano Angela
Department Of Dermatology Columbia University
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Christiano Angela
Department Of Genetics & Development Columbia University
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Barber Alison
Department Of Genetics & Development Columbia University
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COLUMBO Morgana
Department of Dermatology, Columbia University
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LUBETKIN Jillian
Department of Dermatology, Columbia University
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Columbo Morgana
Department Of Dermatology Columbia University
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Lubetkin Jillian
Department Of Dermatology Columbia University
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Christiano Angela
Department Of Dermatology College Of Physicians And Surgeons Columbia University
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Wajid Muhammad
Department Of Dermatology College Of Physicians And Surgeons Columbia University
関連論文
- Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma
- Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin
- Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)
- Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis
- Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions
- Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
- Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families
- A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance