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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Auteurs principaux: Rossetti, Sandro, Strmecki, Lana, Gamble, Vicki, Burton, Sarah, Sneddon, Vicky, Peral, Belén, Roy, Sushmita, Bakkaloglu, Aysin, Komel, Radovan, Winearls, Christopher G., Harris, Peter C.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2001
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234934/
https://ncbi.nlm.nih.gov/pubmed/11115377
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