Literature DB >> 8739964

Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease.

C Terregino1, F Cardona, F Barbetti, I Antonozzi, C Carducci.   

Abstract

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Year:  1996        PMID： 8739964     DOI： 10.1007/bf01799428

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis.

Authors:  L S Lerman; K Silverstein
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

2.  Detection and localization of single base changes by denaturing gradient gel electrophoresis.

Authors:  R M Myers; T Maniatis; L S Lerman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

3.  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

4.  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

5.  Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Authors:  O Boespflug-Tanguy; C Mimault; J Melki; A Cavagna; G Giraud; D Pham Dinh; B Dastugue; A Dautigny
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025
  5 in total

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