- Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 familiesEmmanuelle Bitoun
Wellcome Trust Center for Human Genetics, Oxford, UK
J Invest Dermatol 118:352-61. 2002..Interfamilial and intrafamilial variation in disease severity was observed, with no clear correlation between mutations and phenotype, suggesting that the degree of severity may be affected by other factors...
- Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative casesLorne Lonie
The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
Hum Mutat 27:1160. 2006..This technique was found to be sensitive with a detection rate of 100% regarding heterozygote detection for EXT mutation scanning. Furthermore, this technique has a very high throughput and is very cost-effective...