Literature DB >> 17559084

Polyalanine expansions might not result from unequal crossing-over.

Delphine Trochet, Loïc de Pontual, Boris Keren, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Jeanne Amiel.   

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Year:  2007        PMID： 17559084     DOI： 10.1002/humu.20562

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

Authors:  Tiziana Bachetti; Sara Parodi; Marco Di Duca; Giuseppe Santamaria; Roberto Ravazzolo; Isabella Ceccherini
Journal:  J Mol Med (Berl)       Date:  2011-02-19       Impact factor: 4.599

2.  De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

Authors:  Hiroko Arai; Tesshu Otagiri; Ayako Sasaki; Taeko Hashimoto; Kazuo Umetsu; Katsushi Tokunaga; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2007-10-11       Impact factor: 3.172

3.  Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.

Authors:  Olivier Cocquempot; Véronique Brault; Charles Babinet; Yann Herault
Journal:  Genetics       Date:  2009-06-22       Impact factor: 4.562
  3 in total

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