- Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea
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Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, Ki CS
- KMID: 1713470
- J Korean Med Sci.
- 2008 Apr;23(2):328-331.
- doi: 10.3346/jkms.2008.23.2.328
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on... -
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