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Journal Abstract Search
121 related items for PubMed ID: 7531827
21. A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease. Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G. Clin Genet; 1998 Sep; 54(3):248-9. PubMed ID: 9788732 [No Abstract] [Full Text] [Related]
22. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S. Proc Natl Acad Sci U S A; 1989 Oct; 86(20):8128-31. PubMed ID: 2479017 [Abstract] [Full Text] [Related]
35. Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein gene. Kawanishi C, Sugiyama N, Osaka H, Inoue K, Suzuki K, Onishi H, Yamada Y, Nezu A, Kimura S, Kosaka K. Hum Mutat; 1996 Oct; 7(4):355-7. PubMed ID: 8723686 [No Abstract] [Full Text] [Related]
36. A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Harding B, Ellis D, Malcolm S. Neuropathol Appl Neurobiol; 1995 Apr; 21(2):111-5. PubMed ID: 7541900 [Abstract] [Full Text] [Related]
37. Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease. Terregino C, Cardona F, Barbetti F, Antonozzi I, Carducci C. J Inherit Metab Dis; 1996 Apr; 19(2):197-200. PubMed ID: 8739964 [No Abstract] [Full Text] [Related]
39. Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene. Nagao M, Kadowaki J. J Hum Genet; 1998 Apr; 43(3):206-8. PubMed ID: 9747038 [Abstract] [Full Text] [Related]