Literature DB >> 1719490

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

J A Trofatter1, V M Pratt, S R Dlouhy, M E Hodes.   

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Year:  1991        PMID： 1719490      PMCID： PMC329076          DOI： 10.1093/nar/19.21.6057-a

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  1 in total

1.  MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone.

Authors:  J S Wu; J R Riordan; H F Willard; R Milner; K K Kidd
Journal:  Nucleic Acids Res       Date:  1987-02-25       Impact factor: 16.971
  1 in total
  10 in total

1.  A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

Authors:  K Inoue; H Osaka; N Sugiyama; C Kawanishi; H Onishi; A Nezu; K Kimura; Y Yamada; K Kosaka
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  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

Review 3.  The proteolipid protein gene: double, double, ... and trouble.

Authors:  M E Hodes; S R Dlouhy
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Authors:  C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

5.  A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.

Authors:  S Naidu; S R Dlouhy; M T Geraghty; M E Hodes
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

6.  MvaI polymorphism in the proteolipid protein (PLP) gene.

Authors:  H Osaka; K Inoue; C Kawanishi; Y Yamada; H Onishi; N Sugiyama; K Suzuki; A Nezu; S Kimura; K Kosaka
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

7.  Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

Authors:  S Strautnieks; P Rutland; R M Winter; M Baraitser; S Malcolm
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

8.  Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

Authors:  R Doll; M R Natowicz; R Schiffmann; F I Smith
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

9.  Sequence variations in the first exon of alpha-galactosidase A.

Authors:  J P Davies; B G Winchester; S Malcolm
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

10.  Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

Authors:  K Woodward; E Kendall; D Vetrie; S Malcolm
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  10 in total

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