Allelic heterogeneity in Group A xeroderma pigmentosum
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.1992.tb04052.x/fullpdf
Reference15 articles.
1. On diseases of the skin;Hebra;New Sydenham Soc Lond,1874
2. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation;Lehmann;Proc Natl Acad Sci USA,1975
3. L'idiozia xerodermica;Sanctis;Riv Sper Freniat,1932
4. Neurological manifestations in xeroderma pigmentosum;Mimaki;Ann Neurol,1986
5. Xeroderma pigmentosum with versive seizures;Mimaki;Pediatr Neurol,1988
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1. Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites;Clinical Genetics;2008-06-28
2. Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation;British Journal of Dermatology;2000-07
3. Molecular Studies of Japanese Patients With Group A Xeroderma Pigmentosum Using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism and Nonradioactive Single Strand Conformation Polymorphism Analyses;Journal of Child Neurology;1999-03
4. Truncated XPA protein detected in atypical group A xeroderma pigmentosum;Acta Paediatrica;1996-04
5. Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation;Mutation Research/DNA Repair;1996-02
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