A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
| Autor: | Eytan, O.1,2, Sarig, O.1, Israeli, S.1, Mevorah, B.1, Basel‐Vanagaite, L.2,3,4, Sprecher, E.1,2 |
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| Zdroj: | Clinical & Experimental Dermatology. Mar2014, Vol. 39 Issue 2, p182-186. 5p. 1 Color Photograph, 1 Diagram, 1 Chart. |
| Databáze: | Academic Search Ultimate |
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