Comments to “A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency”

•MLPA analysis requires a deep knowledge of CYP21A2 genetics.•Molecular test should be performed in specialized center.•It is difficult to establish a universal protocol.

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Bibliographic Details
Published in:Gene 2014-01, Vol.534 (2), p.449-450
Main Authors: Concolino, Paola, Mello, Enrica, Rossodivita, Aurora, Giardina, Bruno, Capoluongo, Ettore
Format: Article
Language:English
Subjects:
21-hydroxylase deficiency
Adrenal Hyperplasia, Congenital - diagnosis
Adrenal Hyperplasia, Congenital - genetics
CYP21A2
Humans
MLPA
Molecular diagnosis
Point Mutation
Steroid 21-Hydroxylase - genetics
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Description
Summary:•MLPA analysis requires a deep knowledge of CYP21A2 genetics.•Molecular test should be performed in specialized center.•It is difficult to establish a universal protocol.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2013.09.035