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AN 8-BP DELETION IN EXON-B OF THE IDURONATE-2-SULFATE SULFATASE GENE IN A CASE OF HUNTER DISEASE
被引:4
|
作者
:
GOLDENFUM, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LONDON,INST CHILD HLTH,ENZYMOL UNIT,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
GOLDENFUM, S
MALCOLM, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LONDON,INST CHILD HLTH,ENZYMOL UNIT,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
MALCOLM, S
WINCHESTER, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV LONDON,INST CHILD HLTH,ENZYMOL UNIT,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
WINCHESTER, B
机构
:
[1]
UNIV LONDON,INST CHILD HLTH,ENZYMOL UNIT,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
[2]
UNIV LONDON,INST CHILD HLTH,MOLEC GENET UNIT,LONDON WC1N 1EH,ENGLAND
来源
:
HUMAN MOLECULAR GENETICS
|
1993年
/ 2卷
/ 07期
关键词
:
D O I
:
10.1093/hmg/2.7.1063
中图分类号
:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号
:
071010 ;
081704 ;
摘要
:
引用
收藏
页码:1063 / 1065
页数:3
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[21]
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course
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2013,
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[22]
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course
Sambati, Luisa
论文数:
0
引用数:
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h-index:
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机构:
Ist Sci Neurol, IRCCS, Dipartimento Sci Neurol, Bologna, Italy
Ist Sci Neurol, IRCCS, Dipartimento Sci Neurol, Bologna, Italy
Sambati, Luisa
Agati, Raffaele
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IRCCS Ist Sci Neurol Bologna, Bologna, Italy
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Ist Sci Neurol, IRCCS, Dipartimento Sci Neurol, Bologna, Italy
Agati, Raffaele
Bacci, Antonella
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IRCCS Ist Sci Neurol Bologna, Bologna, Italy
Osped Bellaria, UOC Neuroradiol, Bologna, Italy
Ist Sci Neurol, IRCCS, Dipartimento Sci Neurol, Bologna, Italy
Bacci, Antonella
论文数:
引用数:
h-index:
机构:
Bianchi, Silvia
Capellari, Sabina
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Ist Sci Neurol, IRCCS, Dipartimento Sci Neurol, Bologna, Italy
Ist Sci Neurol, IRCCS, Dipartimento Sci Neurol, Bologna, Italy
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NEUROLOGICAL SCIENCES,
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