Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 o
β¦ LIBER β¦
Tangier disease: Heterozygote detection and linkage analysis
β Scribed by Brian K. Suarez; Gustav Schonfeld; Robert S. Sparkes
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 832 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Fabry's disease: Heterozygote detection
β
T. Grimm; T. F. Wienker; H. -H. Ropers
π
Article
π
1976
π
Springer
π
English
β 351 KB
Reliable co-segregation analysis for pre
β
B. Cormand; M. Montfort; A. ChabΓ‘s; D. Grinberg; L. Vilageliu
π
Article
π
1998
π
John Wiley and Sons
π
English
β 77 KB
π 2 views
Mutations in the gene encoding -glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is particularly
Heterozygote detection in fabry disease
β
Sheth, Kumudchandra J. ;Good, Thomas A. ;Murphy, Jerome V. ;Opitz, John M.
π
Article
π
1981
π
John Wiley and Sons
π
English
β 367 KB
π 2 views
Combined enzymatic and linkage analysis
β
Simon-Schiff, Elena Ben ;Bach, Gideon ;Zlotogora, JoΓ«l ;Abeliovich, Dvorah
π
Article
π
1993
π
John Wiley and Sons
π
English
β 435 KB
π 1 views
Linkage analysis of G8 and Huntington's
β
Mary L. Marazita; M. Anne Spence
π
Article
π
1986
π
John Wiley and Sons
π
English
β 192 KB
π 1 views
Combined segregation and linkage analysi
β
S. L. Sherman; L. Iselius; A. Ellis; J. C. Woodrow; C. J. MacLean
π
Article
π
1986
π
John Wiley and Sons
π
English
β 295 KB