A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

Authors:	Tzipora C Falik‐Zaccai Reut Erel‐Segal Liran Horev Ora Bitterman‐Deutsch Sivan Koka Sara Chaim Zohar Keren Limor Kalfon Bella Gross Zvi Segal Shlomi Orgal Yishay Shoval Hanoch Slor Graciela Spivak Philip C Hanawalt

Institution:	1. Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel;2. The Galilee Faculty of Medicine, Bar Ilan University, Tzfat, Israel;3. Rappaport Faculty of Medicine, Technion, Haifa, Israel;4. Department of Dermatology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel;5. Department of Dermatology, Western Galilee Hospital, Naharia, Israel;6. Department of Neurology, Western Galilee Hospital, Naharia, Israel;7. Department of Ophthalmology, Western Galilee Hospital, Naharia, Israel;8. Department of Molecular Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;9. Biology Department, Stanford University, Stanford, California

Abstract:

Keywords:	DNA repair nucleotide excision repair phenotypic variation xeroderma pigmentosum complementation group