Founder Mutations in Xeroderma Pigmentosum
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference13 articles.
1. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis;Ben;J Hum Genet,2009
2. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor;Gozukara;J Invest Dermatol,2001
3. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population;Hirai;Mutat Res,2006
4. Ancient origin of a Japanese xeroderma pigmentosum founder mutation;Imoto;J Invest Dermatol,2008
5. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. DNA Repair;Khan;Amst,2009
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1. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins;Genes;2021-02-20
2. Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review;BMC Medical Genetics;2020-03-30
3. Sunlight, Vitamin D, and Xeroderma Pigmentosum;Sunlight, Vitamin D and Skin Cancer;2020
4. Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile;BMC Research Notes;2017-12
5. Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge;GENE;2016
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