Congenital central hypoventilation syndrome: Mutation analysis of the receptor tyrosine kinase ret

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 63, Issue 4, 1996, Pages 603-609

  Bolk, Stacey ^a   Angrist, Misha ^a   Schwartz, Stuart ^a   Silvestri, Jean M ^b   Weese Mayer, Debra E ^b   Chakravarti, Araviada ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RUSH MEDICAL COLLEGE   (United States)

Author keywords

Congenital central hypoventilation syndrome; Hirschsprung disease; Mutation detection; RET receptor tyrosine kinase

Indexed keywords

PROTEIN TYROSINE KINASE;

ADULT; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HYPOVENTILATION; MAJOR CLINICAL STUDY; MALE; METAPHASE CHROMOSOME; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME;

CHILD; DROSOPHILA PROTEINS; HUMANS; HYPOVENTILATION; KARYOTYPING; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SLEEP APNEA SYNDROMES;

EID: 0030014485     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<603::AID-AJMG14>3.0.CO;2-M     Document Type: Article

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