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,...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Main Authors: Rossetti, Sandro, Strmecki, Lana, Gamble, Vicki, Burton, Sarah, Sneddon, Vicky, Peral, Belén, Roy, Sushmita, Bakkaloglu, Aysin, Komel, Radovan, Winearls, Christopher G., Harris, Peter C.
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2001
Ábhair:
Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234934/
https://ncbi.nlm.nih.gov/pubmed/11115377
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla