A novel homozygous p.Arg527Leu LMNA mutation in two unrelated egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome
| Autorzy | Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M |
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| Rok | 2012 |
| Czasopismo | Eur J Hum Genet |
| Tom | 20(11) |
| Strony | 1134-40 |