Results 191 to 195 of about 3,461 (195)

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency

Clinical Chemistry and Laboratory Medicine, 2009
Paola Concolino, Angelo Minucci, Enrica Mello   +2 more
exaly  

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Human genetics, 2010
Ettore, Capoluongo, Paola, Concolino, Francesca, Vendittelli, Cecilia, Zuppi   +3 more
openaire   +1 more source

Functional importance of novel nucleotide variations in the CYP21A2 gene

2021
openaire   +1 more source

Gene symbol: CYP21A2. Disease: adrenal hyperplasia, CYP21.

Human genetics, 2007
L, Dain, C, Minutolo, N, Buzzalino, S, Belli, A, Oneto, E, Charreau, L, Alba   +6 more
openaire   +1 more source

Discrepant MLPA and genomic sequencing results in CYP21A2 testing

Pathology
Jane Estrella, Tessa Dadd, Zohara Piscopio, Cheryl Wise, Ratna Dubey, Brian Tan   +5 more
openaire   +1 more source