Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

Author: Trochet Delphine   Hong Seok Jong   Lim Jin Kyu   Brunet Jean-François   Munnich Arnold   Kim Kwang-Soo   Lyonnet Stanislas   Goridis Christo   Amiel Jeanne  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.14, Iss.23, 2005-12, pp. : 3697-3708

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Abstract