𝔖 Bobbio Scriptorium
✦   LIBER   ✦

One germline mutation of PTCH gene in a Chinese family with non-syndromic keratocystic odontogenic tumours

✍ Scribed by X. Wang; Y. Lu; G. Shen; W. Chen


Book ID
116562295
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
471 KB
Volume
40
Category
Article
ISSN
0901-5027

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Multiple acral fibromas in a patient wit
✍ O. Dereure; D. Savoy; F. Doz; C. Junien; J-J. Guilhou 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB

We report a 40-year-old patient with familial retinoblastoma also affecting his elder son, who developed multiple fibromas on the periungual or subungual areas of all the fingers. Molecular analysis disclosed a loss of heterozygosity for the RB1 gene in the larger tumour, with disappearance of the n

A novel mutation of the ε-sarcoglycan ge
✍ Xue-Ping Chen; Yang-Wei Zhang; Shu-Shan Zhang; Qin Chen; Jean-Marc Burgunder; Sh 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 418 KB

## Abstract In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (__SGCE__) gene, leading to a frameshift wi