Literature DB >> 7705847

MvaI polymorphism in the proteolipid protein (PLP) gene.

H Osaka1, K Inoue, C Kawanishi, Y Yamada, H Onishi, N Sugiyama, K Suzuki, A Nezu, S Kimura, K Kosaka.   

Abstract

We report a rare polymorphism in the human proteolipid protein (PLP) gene. A synonymous mutation, 168 A-->G, was detected in exon 2 of the PLP gene. Mutations in this gene have been reported in some cases of Pelizaeus-Merzbacher disease.

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Year:  1995        PMID： 7705847     DOI： 10.1007/bf00208978

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  2 in total

1.  AhaII polymorphism in human X-linked proteolipid protein gene (PLP).

Authors:  J A Trofatter; V M Pratt; S R Dlouhy; M E Hodes
Journal:  Nucleic Acids Res       Date:  1991-11-11       Impact factor: 16.971

2.  Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

Authors:  D Pham-Dinh; J L Popot; O Boespflug-Tanguy; P Landrieu; J F Deleuze; J Boué; P Jollès; A Dautigny
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-01       Impact factor: 11.205
  2 in total
  1 in total

1.  Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Authors:  M E Hodes; K Woodward; N B Spinner; B S Emanuel; A Enrico-Simon; J Kamholz; D Stambolian; E H Zackai; V M Pratt; I T Thomas; K Crandall; S R Dlouhy; S Malcolm
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025
  1 in total

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