PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

Chinese Medical Journal

Volumn 119, Issue 20, 2006, Pages 1749-1752

  Or, Siu Fong June ^a   Tong, Ming For Tony ^a   Lo, Fai Man Ivan ^a   Law, Chi Wai ^b   Miu, Ting Yat ^b   Trochet, Delphine ^c   Lam, Tak Sum Stephen ^a  

^a DEPARTMENT OF HEALTH   (Hong Kong)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Chinese; Congenital central hypoventilation syndrome; Mutation; PHOX2B

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PHOX2B; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CASE REPORT; CHINESE; CLINICAL FEATURE; CODON; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; EXON; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HYPOVENTILATION; INTRON; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION;

EID: 33750693364     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200610020-00014     Document Type: Article

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