Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference19 articles.
1. Domains in the XPA protein important in its role as a processivity factor;Bartels;Biochem. Biophys. Res. Commun.,2007
2. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis;Ben Rekaya;J. Hum. Genet.,2009
3. Cancer and neurologic degeneration in Xeroderma pigmentosum: long term follow-up characterizes the role of DNA repair;Bradford;J. Med. Genet.,2011
4. Xeroderma pigmentosum: a case report and review of the literature;Feller;J. Prev. Med. Hyg.,2010
5. Molecular genetics of Xeroderma pigmentosum variant;Gratchev;Exp. Dermatol.,2003
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1. Intralesional methotrexate versus 5-flurouracil in the treatment of keratoacanthoma;Archives of Dermatological Research;2024-06-15
2. Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A;Frontiers in Genetics;2021-08-16
3. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins;Genes;2021-02-20
4. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation;Archives of Dermatological Research;2019-08-06
5. Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype;Frontiers in Genetics;2019-02-14
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