The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients.
Combining Real-Time COLD-and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndromeâ
de Sanctis, Luisa
First
;Galliano, Ilaria;Montanari, Paola;Tessaris, Daniele;Bergallo, Massimiliano
Co-last
2017-01-01
Abstract
The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients.
File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
463384.pdf
Accesso riservato
Tipo di file:
PDF EDITORIALE
Dimensione
852.38 kB
Formato
Adobe PDF
|
852.38 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
