Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Human mutation

Volumn 29, Issue 1, 2008, Pages 206-

  Parodi, Sara ^a   Bachetti, Tiziana ^a   Lantieri, Francesca ^a   Di Duca, Marco ^a   Santamaria, Giuseppe ^a   Ottonello, Giancarlo ^a   Matera, Ivana ^a   Ravazzolo, Roberto ^a   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; NBPHOX PROTEIN; PEPTIDE; POLYALANINE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CENTRAL SLEEP APNEA SYNDROME; CHILD; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MOSAICISM; MUTATION; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; PEPTIDES; POLYMORPHISM, SINGLE NUCLEOTIDE; SLEEP APNEA, CENTRAL; SYNDROME; TRANSCRIPTION FACTORS;

EID: 38849088791     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9516     Document Type: Article

References (0)