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

Human Molecular Genetics

Volumn 14, Issue 23, 2005, Pages 3697-3708

  Trochet, Delphine ^a   Hong, Seok Jong ^b   Lim, Jin Kyu ^b   Brunet, Jean François ^c   Munnich, Arnold ^a   Kim, Kwang Soo ^b   Lyonnet, Stanislas ^a   Goridis, Christo ^c   Amiel, Jeanne ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b MCLEAN HOSPITAL   (United States)

^c ECOLE NORMALE SUPÉRIEURE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA; DOPAMINE BETA MONOOXYGENASE; HOMEODOMAIN PROTEIN; MUTANT PROTEIN; POLYAMINOACID; TRANSCRIPTION FACTOR PHOX2B; UNCLASSIFIED DRUG;

ADRENERGIC SYSTEM; ARTICLE; AUTONOMIC DYSFUNCTION; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HYPOVENTILATION; MISSENSE MUTATION; PHOX2B GENE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DNA BINDING; PROTEIN FOLDING; PROTEIN LOCALIZATION; TRANSACTIVATION; WILD TYPE;

ANIMALS; AUTONOMIC NERVOUS SYSTEM DISEASES; CELLS, CULTURED; CYTOPLASM; DNA; DNA MUTATIONAL ANALYSIS; DOPAMINE BETA-HYDROXYLASE; FRAMESHIFT MUTATION; HOMEODOMAIN PROTEINS; HUMANS; INCLUSION BODIES; MICE; MUTATION; MUTATION, MISSENSE; PEPTIDES; PROMOTER REGIONS (GENETICS); TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 28744432065     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi401     Document Type: Article

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