Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

American Journal of Medical Genetics

Volumn 113, Issue 2, 2002, Pages 178-182

  Matera, Ivana ^a   Bachetti, Tiziana ^a   Cinti, Roberta ^a   Lerone, Margherita ^a   Gagliardi, Luigi ^b   Morandi, Francesco ^c   Motta, Mario ^d   Mosca, Fabio ^b   Ottonello, Giancarlo ^a   Piumelli, Raffaele ^e   Schober, Johannes G ^f   Ravazzolo, Roberto ^a,g   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b Dipartimento di Neonatologia   (Italy)

^c Servizio Veterinario   (Italy)

^d UO Terapia Intensiva Neonatale   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f Kinderklinik   (Germany)

^g UNIVERSITY OF GENOA   (Italy)

Author keywords

Congenital central hypoventilation; Mutation screening; RNX gene

Indexed keywords

ARTICLE; AUTONOMIC DYSFUNCTION; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA FLANKING REGION; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HIRSCHSPRUNG DISEASE; HOMEOBOX; HUMAN; HYPOVENTILATION; MULTIGENE FAMILY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REPORTER GENE; RESPIRATION CONTROL; RNX GENE; SEGREGATION ANALYSIS; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME; WILD TYPE;

ANIMALS; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HOMEODOMAIN PROTEINS; HUMANS; LUCIFERASES; MALE; MICE; ONCOGENE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; RECOMBINANT FUSION PROTEINS; SLEEP APNEA, CENTRAL; TUMOR CELLS, CULTURED;

UNIDENTIFIED AGENTS;

EID: 0037159480     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10746     Document Type: Article

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