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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh AR, Saif F, Nair P, Binjab AJ, Mohamed M, Al-Ali MT, Bastaki F. Hamzeh AR, et al. BMC Pediatr. 2017 Jan 19;17(1):31. doi: 10.1186/s12887-017-0781-4. BMC Pediatr. 2017. PMID: 28103835 Free PMC article.
This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 105 erroneous amino acids followed by a premature stop codon at position 106. ...CONCLUSIONS: A novel variant in FGD1 was found in an Emirati …
This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 1 …
Novel alternative splicing of human faciogenital dysplasia 1 gene.
Yanagi K, Kaname T, Chinen Y, Naritomi K. Yanagi K, et al. Congenit Anom (Kyoto). 2004 Sep;44(3):137-41. doi: 10.1111/j.1741-4520.2004.00026.x. Congenit Anom (Kyoto). 2004. PMID: 15327482
Insertion of each novel exon results in production of a premature termination codon, respectively, and the predicted proteins generated from them have only a proline-rich domain and an incomplete DH domain which potentially compete with the wild type of FGD1....
Insertion of each novel exon results in production of a premature termination codon, respectively, and the predicted proteins generat …