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QS297. Denaturing High Performance Liquid Chromatography for the Detection of Germline Mutations in Phaeochromocytoma

✍ Scribed by Goswin Y. Meyer-Rochow; Janine M. Smith; Debbie J. Marsh; Bruce G. Robinson; Stanley B. Sidhu; Diana E. Benn


Book ID
116704069
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
78 KB
Volume
144
Category
Article
ISSN
0022-4804

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Mutations in the a-galactosidase A (a-Gal A, GLA) gene cause Fabry disease, an X-linked recessive lysosomal storage disease. The majority of mutations are private, and confirmation of carrier status in females requires the definitive identification of a DNA mutation. In addition, knowledge of a fami