Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Nature Genetics

Volumn 33, Issue 4, 2003, Pages 459-461

  Amiel, Jeanne ^a   Laudier, Béatrice ^a   Attié Bitach, Tania ^a   Trang, Ha ^b   De Pontual, Loïc ^a   Gener, Blanca ^c   Trochet, Delphine ^a   Etchevers, Heather ^a   Ray, Pierre ^a   Simonneau, Michel ^b   Vekemans, Michel ^a   Munnich, Arnold ^a   Gaultier, Claude ^b   Lyonnet, Stanislas ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c HOSPITAL DE CRUCES   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE;

ARTICLE; AUTONOMIC NERVOUS SYSTEM; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; FRAMESHIFT MUTATION; GANGLIONEUROMA; GENE EXPRESSION; HIRSCHSPRUNG DISEASE; HOMEOBOX; HUMAN; HYPERCAPNIA; HYPOVENTILATION; NEUROBLASTOMA; PHENOTYPE; PHOX2B GENE; PRIORITY JOURNAL;

ALANINE; BRAIN STEM; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; NERVOUS SYSTEM; NEURONS; PEPTIDES; PHENOTYPE; RECOMBINATION, GENETIC; SLEEP APNEA, CENTRAL; TRANSCRIPTION FACTORS;

EID: 0037379890     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1130     Document Type: Article

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