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Volumn 67, Issue 3, 2000, Pages 750-754

Rare etiology of autosomal recessive disease in a child with noncarrier parents

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 1; CHROMOSOME 16; DISEASE CARRIER; FERTILIZATION; GENE DELETION; GENE LOCUS; GENE MUTATION; HUMAN; MAPLE SYRUP URINE DISEASE; MEIOSIS; NONDISJUNCTION; PRIORITY JOURNAL;

EID: 0033838127     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303042     Document Type: Article
Times cited : (11)

References (14)
  • 4
    • 0030791608 scopus 로고    scopus 로고
    • Transacylase-deficient (Type II) maple syrup urine disease aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype
    • (1997) J Clin Invest , vol.100 , pp. 736-744
    • Chuang, J.L.1    Cox, R.P.2    Chuang, D.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.