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Volumn 7, Issue 3, 1996, Pages 103-106

Mutations and phenotypes in dihydropteridine reductase deficiency in Italy

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPTERIDINE REDUCTASE;

EID: 0029988254     PISSN: 09334807     EISSN: 21954720     Source Type: Journal    
DOI: 10.1515/pteridines.1996.7.3.103     Document Type: Conference Paper
Times cited : (3)

References (17)
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  • 4
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  • 5
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    • Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency
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  • 6
    • 0027305275 scopus 로고
    • Identification and in vitro expression of mutation causing dihydropteridine reductase deficiency
    • Smooker PM, Howells DW, Cotton RGH. Identification and in vitro expression of mutation causing dihydropteridine reductase deficiency. Biochemistry 1993; 32: 6443-6449.
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  • 7
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  • 8
    • 0029001169 scopus 로고
    • Molecular basis of dihydropteridine reductase deficiency
    • Smooker PM, Cotton RGH. Molecular basis of dihydropteridine reductase deficiency. Hum Mutat 1995; 5(4): 279-284.
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  • 9
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    • A mutation causing DHPR deficiency results in a frameshift and secondary splicing defect
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  • 15
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.