2 NOVEL SPLICING MUTATIONS IN THE XPA GENE IN PATIENTS WITH GROUP-A XERODERMA-PIGMENTOSUM

被引：10

作者：

SATOKATA, I

UCHIYAMA, M

TANAKA, K

机构：

[1] OSAKA UNIV,INST MOLEC & CELLULAR BIOL,SUITA,OSAKA 565,JAPAN

[2] NIIGATA UNIV,SCH MED,DEPT PEDIAT,NIIGATA 951,JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 10期

关键词：

D O I：

10.1093/hmg/4.10.1993

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：

[No abstract available]

引用

页码：1993 / 1994

页数：2

共 12 条

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[3]

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NATURE, 1992, 359 (6390) :70-73

[5] MOLECULAR-BASIS OF GROUP-A XERODERMA-PIGMENTOSUM - A MISSENSE MUTATION AND 2 DELETIONS LOCATED IN A ZINC FINGER CONSENSUS SEQUENCE OF THE XPAC GENE [J].

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[6]

SATOKATA I, 1993, GENE, V136, P345

[7] CHARACTERIZATION OF A SPLICING MUTATION IN GROUP-A XERODERMA-PIGMENTOSUM [J].

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[8] 3 NONSENSE MUTATIONS RESPONSIBLE FOR GROUP-A XERODERMA-PIGMENTOSUM [J].

SATOKATA, I ;

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OKADA, Y .

MUTATION RESEARCH, 1992, 273 (02) :193-202

[9] IDENTIFICATION OF SPLICING MUTATIONS OF THE LAST NUCLEOTIDES OF EXONS, A NONSENSE MUTATION, AND A MISSENSE MUTATION OF THE XPAC GENE AS CAUSES OF GROUP-A XERODERMA-PIGMENTOSUM [J].

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YUBA, S ;

OKADA, Y .

MUTATION RESEARCH, 1992, 273 (02) :203-212

[10] COMPLEMENTATION OF THE DNA-REPAIR DEFECT IN XERODERMA-PIGMENTOSUM GROUP-G CELLS BY A HUMAN CDNA RELATED TO YEAST RAD2 [J].

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