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Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR. Hodes ME, et al. Among authors: aydanian a. Am J Med Genet. 1999 Jan 15;82(2):132-9. doi: 10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4. Am J Med Genet. 1999. PMID: 9934976