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

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 the long arm of the X chromosome in band Xq22. This mutation results in abnormal expression or product...

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Detalles Bibliográficos
Autores principales: Kim, Sei Joo, Yoon, Joon Shik, Baek, Hye Jin, Suh, Sang Il, Bae, Sook Young, Cho, Hyun-Jung, Ki, Chang-Seok
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526427/
https://www.ncbi.nlm.nih.gov/pubmed/18437021
http://dx.doi.org/10.3346/jkms.2008.23.2.328

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