Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications

Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing long polymerase chain reaction (PCR) and specific reverse transcription–PCR,...

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Hoofdauteurs: Rossetti, Sandro, Strmecki, Lana, Gamble, Vicki, Burton, Sarah, Sneddon, Vicky, Peral, Belén, Roy, Sushmita, Bakkaloglu, Aysin, Komel, Radovan, Winearls, Christopher G., Harris, Peter C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2001
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234934/
https://ncbi.nlm.nih.gov/pubmed/11115377
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