Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP) von Thongnoppakhun, Wanna, Limwongse, Chanin, Vareesangthip, Kriengsak, Sirinavin, Chintana, Bunditworapoom, Duangkamon, Rungroj, Nanyawan, Yenchitsomanus, Pa-thai

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A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the... von Thongnoppakhun, Anna, Rungroj, Nanyawan, Wilairat, Prapon, Vareesangthip, Kriengsak, Sirinavin, Chintana, Yenchitsomanus, Pa-thai

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Molecular defect of PKD1 gene resulting in abnormal rna processing in a Thai family von RUNGROJ, Nanyawan, VAREESANGTHIP, Kriengsak, WILAIRAT, Prapon, THONGNOPPAKHUN, Wanna, SIRINAVIN, Chintana, YENCHITSOMANUS, Pa-Thai

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Dyskeratosis congenita: Hematologic evaluation of a sibship and review of the literature von Trowbridge, Arthur A., Sirinavin, Chintana, Linman, James W.

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