𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel next-generation DNA sequencing test for detection of disease mutations in carrier and affected individuals

✍ Scribed by G. Porreca; M. Umbarger; C. Kennedy; P. Saunders; C. Towne

Book ID
116479293
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
44 KB
Volume
96
Category
Article
ISSN
1556-5653

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Fabry disease: Comparison of enzymatic,
Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)
✍ Ashton-Prolla, P.; Ashley, G.A.; Giugliani, R.; Pires, R.F.; Desnick, R.J.; Eng, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 41 KB πŸ‘ 2 views

Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme ␣-galactosidase A (␣-Gal A). Affected males are reliably diagnosed by demonstration of deficient ␣-Gal A activity in plasma or leukocytes. However, identification of female carriers is probl

Sandhoff disease in Argentina: high freq
Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection
✍ Frida E. Kleiman; Raquel Dodelson Kremer; Ana Oller Ramirez; Roy A. Gravel; Carl πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 422 KB

The level of beta-hexosaminidase activity in plasma and leukocytes and the frequency of three known HEXB mutations were studied in an Argentinean deme with high incidence of infantile Sandhoff disease. Two mutations were previously identified in one of two Sandhoff patients from the region, a splice