Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions
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概要
- 論文の詳細を見る
- 2005-10-01
著者
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Greenstein Robert
Division Of Human Genetics University Of Connecticut Health Center
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ZLOTOGORSKI Abraham
Department of Dermatology, Hadassah-Hebrew University Medical Center
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Christiano Angela
Department Of Dermatology Columbia University College Of Physicians And Surgeons
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Christiano Angela
Department Of Dermatology Columbia University
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Zlotogorski Abraham
Department Of Dermatology Hadassah-hebrew University Medical Center
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ASHOOR Ghalia
Genetic Skin Disease Group, St. John's Institute of Dermatology, The Guy's King's College and St. Th
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LAM HaMut
Department of Dermatology, Columbia University, College of Physicians and Surgeons
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MARTINEZ-MIR Amalia
Department of Dermatology, Columbia University, College of Physicians and Surgeons
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Lam Hamut
Department Of Dermatology Columbia University College Of Physicians And Surgeons
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Martinez-mir Amalia
Department Of Dermatology Columbia University College Of Physicians And Surgeons
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Ashoor Ghalia
Genetic Skin Disease Group St. John's Institute Of Dermatology The Guy's King's College And St. Thomas' Hospital Medical School
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Christiano Angela
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
- The H syndrome : Two novel mutations affecting the same amino acid residue of hENT3
- 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