- Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion
-
Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN
- KMID: 755662
- Exp Mol Med.
- 2004 Feb;36(1):28-35.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12.... -
- CITED
-
- Close
- SHARE
-
- Close
- Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye
-
Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC
- KMID: 1130046
- J Korean Med Sci.
- 2003 Oct;18(5):727-732.
- doi: 10.3346/jkms.2003.18.5.727
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients... -
- CITED
-
- Close
- SHARE
-
- Close
