Christiano Angela | Department Of Dermatology College Of Physicians And Surgeons Columbia University

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著作論文

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

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