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Diagnosis of Xeroderma pigmentosum C by detection of the founder mutation c.1643_1644delTG (p.Val548AlafsX25) in a Sudanese Family
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نویسنده
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El-Harith El-Harith A. ,Pahl Lisa ,Al-Nutaifi Khlood ,Bukhari Iqbal ,Schmidtke Joerg ,Stuhrmann Manfred
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منبع
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journal of dermatology and dermatologic surgery - 2012 - دوره : 16 - شماره : 2 - صفحه:85 -86
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چکیده
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Xeroderma pigmentosum (xp, omim 278700–278780) is a rare cutaneous autosomal recessive disorder associated with severe morbidity and poor prognosis.
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آدرس
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University of Dammam, College of Medicine, Saudi Arabia, Institute of Human Genetics, Medical School of Hannover, Germany, University of Dammam, College of Medicine, Saudi Arabia, University of Dammam, College of Medicine, Saudi Arabia, Institute of Human Genetics, Medical School of Hannover, Germany, Institute of Human Genetics, Medical School of Hannover, Germany
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Authors
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