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1999: ME Hodes; Andrew W Zimmerman; A Aydanian; Sakkubai Naidu; Neil R Miller; J L Garcia Oller; B Barker; K A Aleck; T D Hurley; Stephen R Dlouhy
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).
American journal of medical genetics 1999;82(2):132-9.
1998: ME Hodes; A Aydanian; Stephen R Dlouhy; D T Whelan; Tim Heshka; G Ronen
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
Clinical genetics 1998;54(3):248-9.
1998: ME Hodes; A Hadjisavvas; I J Butler; A Aydanian; Stephen R Dlouhy
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
American journal of medical genetics 1998;75(5):516-7.