The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
Autor: | Iqbal, Muddassar, Muhammad, Niaz, Ali, Sheikh A., Kostjukovits, Svetlana, Mäkitie, Outi, Naz, Sadaf |
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Zdroj: | Clinical Dysmorphology; Apr2017, Vol. 26 Issue 2, p121-123, 3p, 1 Diagram |
Databáze: | Complementary Index |
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