Molecular analysis of congenital central hypoventilation syndrome

Human Genetics

Volumn 114, Issue 1, 2003, Pages 22-26

  Sasaki, Ayako ^a   Kanai, Masayo ^a   Kijima, Kazuki ^a   Akaba, Kazuhiro ^a   Hashimoto, Motoya ^b   Hasegawa, Hisaya ^c   Otaki, Shinsuke ^d   Koizumi, Takenobu ^e   Kusuda, Satoshi ^f   Ogawa, Youhei ^g   Tuchiya, Keiji ^h   Yamamoto, Wakako ^h   Nakamura, Tomohiko ⁱ   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b Saiseikai Yamagata Hospital   (Japan)

^c Matsudo City Hospital   (Japan)

^d Yamagata Pref Nihon kai Hospital   (Japan)

^e Gunma Children's Medical Center   (Japan)

^f OSAKA CITY GENERAL HOSPITAL   (Japan)

^g NAGAOKA RED CROSS HOSPITAL   (Japan)

^h JAPANESE RED CROSS MEDICAL CENTER   (Japan)

ⁱ NAGANO CHILDREN'S HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; ENDOTHELIN 1; ENDOTHELIN 3; ENDOTHELIN B RECEPTOR; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GLYCOSYLPHOSPHATIDYLINOSITOL LINKED ANCHOR PROTEIN 1; HUMAN ACHAETE SCUTE HOMOLOG 1; PAIRED MEDOSERM HOMEOBOX 2A; PAIRED MEDOSERM HOMEOBOX 2B; PROTEIN RET; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; PATHOGENESIS; PRIORITY JOURNAL;

AGE OF ONSET; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTORS; HUMANS; INFANT; MALE; NERVE GROWTH FACTORS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; RESPIRATION, ARTIFICIAL; SLEEP APNEA, CENTRAL; SYNDROME;

EID: 10744219538     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-1036-z     Document Type: Article

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