메뉴 건너뛰기




Volumn 107, Issue 2, 2000, Pages 150-159

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: Mutations causing acute intermittent porphyria and specific intragenic polymorphisms

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

EID: 0033817037     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000323     Document Type: Article
Times cited : (16)

References (64)
  • 1
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Nomenclature working group
    • (1998) Hum Mut , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 3
    • 0028072963 scopus 로고
    • Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene
    • (1994) Hum Mut , vol.4 , pp. 243-252
    • Astrin, K.H.1    Desnick, R.J.2
  • 11
    • 0027499770 scopus 로고
    • Human gene mutations affecting RNA processing and translation
    • (1993) Ann Med , vol.25 , pp. 11-17
    • Cooper, D.N.1
  • 12
    • 0033082394 scopus 로고    scopus 로고
    • RNA surveillance: Unforeseen consequences for gene expression, inherited genetic disorders and cancer
    • (1999) Trends Genet , vol.15 , pp. 74-80
    • Culbertson, M.R.1
  • 34
    • 0003569360 scopus 로고
    • Molecular genetic investigation of the human porphobilinogen deaminase gene in acute intermittent porphyria
    • Academic dissertation, Karolinska Institute, Sweden
    • (1991) , pp. 1-50
    • Lee, J.S.1
  • 36
    • 0025888932 scopus 로고
    • Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10912-10915
    • Lee, J.S.1    Anvret, M.2
  • 59
    • 0032801875 scopus 로고    scopus 로고
    • Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: Identification of twenty five novel mutations
    • (1999) Hum Genet , vol.104 , pp. 505-510
    • Whatley, S.D.1    Woolf, J.R.2    Elder, G.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.