De novo mutation in three families with multigenerational incontinentia pigmenti.
作者信息
Scheuerle A, Lewis R A, Levy M L, Nelson D L
出版信息
Am J Hum Genet. 1994 Dec;55(6):1279-81.
Abstract
摘要
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引用本文的文献
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Incontinentia pigmenti (Bloch-Sulzberger syndrome).色素失禁症（布洛赫-苏尔茨贝格综合征）。
J Med Genet. 1993 Jan;30(1):53-9. doi: 10.1136/jmg.30.1.53.
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Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.三个芬兰色素失禁症（IP）家族，其Xq28和Xp11处的IP基因座发生了重组。
Hum Genet. 1993 Mar;91(2):185-9. doi: 10.1007/BF00222723.
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The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.家族性色素失禁症（IP2）的基因定位于Xq28的远端。
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The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.人类X染色体长臂的端粒区域：一种高度多态性DNA标记的存在及重组频率分析。
Proc Natl Acad Sci U S A. 1985 May;82(9):2824-8. doi: 10.1073/pnas.82.9.2824.
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The gene for incontinentia pigmenti is assigned to Xq28.色素失禁症基因定位于Xq28。
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Automated DNA sequencing of the human HPRT locus.人类次黄嘌呤磷酸核糖转移酶（HPRT）基因座的自动化DNA测序
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Am J Med Genet. 1992;43(1-2):237-43. doi: 10.1002/ajmg.1320430138.
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