Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome

Pediatrics

Volumn 101, Issue 5, 1998, Pages 924-926

  Sakai, Tetsuo ^a   Wakizaka, Akira ^a   Matsuda, Hiroo ^a   Nirasawa, Yuji ^a   Itoh, Yasuo ^a  

^a KYORIN UNIVERSITY   (Japan)

Author keywords

Direct sequencing; Mutation; Ondine Hirschsprung syndrome; Polymerase chain reaction; Tyrosine kinase proto oncogene

Indexed keywords

PROTEIN TYROSINE KINASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12; DNA FLANKING REGION; ENZYME ACTIVATION; EXON; FEMALE; GENE MAPPING; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; INTRON; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTO ONCOGENE; RECEPTOR GENE;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DROSOPHILA PROTEINS; EXONS; FEMALE; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; POINT MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SLEEP APNEA SYNDROMES; SYNDROME;

EID: 0031925226     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.101.5.924     Document Type: Article

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