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

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

Affiliation:	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