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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

BACKGROUND: We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 and 34 of the PKD1 gene. These have provided us with an opportunity to study P...

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Bibliographische Detailangaben
Hauptverfasser: Thongnoppakhun, Wanna, Limwongse, Chanin, Vareesangthip, Kriengsak, Sirinavin, Chintana, Bunditworapoom, Duangkamon, Rungroj, Nanyawan, Yenchitsomanus, Pa-thai
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2004
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC356914/
https://ncbi.nlm.nih.gov/pubmed/15018634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-5-2
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