We analysed for HGD mutations 40 AKU patients enrolled for the first part of the 7FP-supported project DevelopAKUre run in two study centres in Piestany (Slovakia) and Liverpool (UK). In this cohort we observed 20 different pathogenic variants, two of which were novel. Eight additional novel HGD mutations were found in 36 AKU patients not enrolled in the therapeutic trial.
10 novel HGD mutations identified in “black bone disease” patients / A. Zatkova; M. Nemethova; J. Radvanszky; R. Aquaron; B. Porfirio; A. Santucci; S. Sestini; G. Biolcati; F. Sorge; C. Aurizi; C. Marques Lourenço; K. Ramadevi; L. Ranganath; J. Rovensky; R. Imrich; L. Kadasi. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - ELETTRONICO. - 22:(2014), pp. 127-127.
10 novel HGD mutations identified in “black bone disease” patients
PORFIRIO, BERARDINO;
2014
Abstract
We analysed for HGD mutations 40 AKU patients enrolled for the first part of the 7FP-supported project DevelopAKUre run in two study centres in Piestany (Slovakia) and Liverpool (UK). In this cohort we observed 20 different pathogenic variants, two of which were novel. Eight additional novel HGD mutations were found in 36 AKU patients not enrolled in the therapeutic trial.
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