Literature DB >> 10586280

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.

P Seeman1, R Mazanec, T Marikova, B Rautenstrauss.   

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Year:  1999        PMID： 10586280

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  2 in total

1.  MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

Authors:  Jonathan Rips; Rebecca Meyer-Schuman; Oded Breuer; Reuven Tsabari; Avraham Shaag; Shoshana Revel-Vilk; Shimon Reif; Orly Elpeleg; Anthony Antonellis; Tamar Harel
Journal:  Eur J Med Genet       Date:  2018-04-12       Impact factor: 2.708

2.  Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.

Authors:  Nivedita U Jerath; John Kamholz; Tiffany Grider; Amy Harper; Andrea Swenson; Michael E Shy
Journal:  Muscle Nerve       Date:  2015-06-19       Impact factor: 3.217
  2 in total

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