A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation (vol 83, pg 594, 2017)

被引：0
|
作者：
Choudhary, Shyama [1 ]
Parakh, Manish [1 ]
Suthar, Kiran [1 ]
Parakh, Poonam [2 ]
Khichar, Satyendra [3 ]
机构：
[1] Dr SN Med Coll, Dept Pediat, Jodhpur, Rajasthan, India
[2] Dr SN Med Coll, Dept Obstet & Gynecol, Jodhpur, Rajasthan, India
[3] AIIMS, Med, Jodhpur, Rajasthan, India
来源：
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY | 2018年 / 84卷 / 01期
关键词：
D O I：
10.4103/0378-6323.216934
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
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页码：122 / 122
页数：1
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    Choudhary, Shyama
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    Suthar, Kiran
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    Khichar, Satyendra
    [J]. INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2017, 83 (05): : 594 - 595
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    [J]. HUMAN GENOME VARIATION, 2020, 7 (01)
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  • [4] CHARACTERISTICS OF UV-INDUCED MUTATION SPECTRA IN HUMAN XP-D/ERCC2 GENE-MUTATED XERODERMA-PIGMENTOSUM AND TRICHOTHIODYSTROPHY CELLS
    MARIONNET, C
    BENOIT, A
    BENHAMOU, S
    SARASIN, A
    STARY, A
    [J]. JOURNAL OF MOLECULAR BIOLOGY, 1995, 252 (05) : 550 - 562
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