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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents
Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T, Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, MarVolume:
12
Language:
english
Journal:
Genetics in Medicine
DOI:
10.1097/gim.0b013e3181e21afa
Date:
July, 2010
File:
PDF, 1.13 MB
english, 2010