Literature DB >> 9727841

Reverse mutations--spontaneous amelioration or cure of inherited disorders?

V Wahn1, V Stephan, R Hirschhorn.   

Abstract

Some recent publications indicate that inherited disorders can ameliorate or possibly disappear if mutations responsible for the disease revert to normal. This review tries to summarize our current knowledge about reverse mutations as this information may be of special interest for attempts at somatic gene therapy.

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Year:  1998        PMID： 9727841     DOI： 10.1007/s004310050896

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  3 in total

1.  Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

Authors:  Gulbu Uzel; Emilia Tng; Sergio D Rosenzweig; Amy P Hsu; Jacqueline M Shaw; Mitchell E Horwitz; Gilda F Linton; Stacie M Anderson; Martha R Kirby; Jaõ B Oliveira; Margaret R Brown; Thomas A Fleisher; S K Alex Law; Steven M Holland
Journal:  Blood       Date:  2007-09-17       Impact factor: 22.113

2.  Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Authors:  Jaya Punetha; Simin Mansoor; Tulio E Bertorini; Akanchha Kesari; Kristy J Brown; Eric P Hoffman
Journal:  Eur J Hum Genet       Date:  2016-03-09       Impact factor: 4.246

Review 3.  In vivo reversion to normal of inherited mutations in humans.

Authors:  R Hirschhorn
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318
  3 in total

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