PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome

American Journal of Respiratory and Critical Care Medicine

Volumn 177, Issue 8, 2008, Pages 906-911

  Trochet, Delphine ^a   De Pontual, Loïc ^a   Straus, Christian ^b   Gozal, David ^c   Trang, Ha ^a   Landrieu, Pierre ^d   Munnich, Arnold ^a   Lyonnet, Stanislas ^a   Gaultier, Claude ^a   Amiel, Jeanne ^a,e  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c University of Louisville School of Medicine   (United States)

^d BICÊTRE HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Late onset central hypoventilation; PHOX2B; Somatic mosaic

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HEREDITY; HETEROZYGOSITY; HUMAN; HYPOVENTILATION; INFANT; MALE; PHOX2B GENE; PRIORITY JOURNAL; SOMATIC MUTATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA REPEAT EXPANSION; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; MOSAICISM; MUTATION, MISSENSE; SLEEP APNEA, CENTRAL; TRANSCRIPTION FACTORS;

EID: 42649095171     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200707-1079OC     Document Type: Article

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