Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC-Reference-Cited by-同舟云学术

Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC

Published:1998-11 Issue:5 Volume:111 Page:791-796
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Khan Sikandar G.,Levy Harvey L.,Legerski Randy,Quackenbush Elizabeth,Reardon Joyce T.,Emmert Steffen,Sancar Aziz,Li Lei,Schneider Thomas D.,Cleaver James E.,Kraemer Kenneth H.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference39 articles.

1. Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis;Aoufouchi;Cell,1996

2. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy;Bootsma,1998

3. Splicing mutants and their second-site suppressors at the dihydrofilate reductase locus in Chinese hamster ovary cells;Carothers;Mol Cell Biol,1993

4. Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes;Carreau;Carcinogenesis,1995

5. Sensitivity of excision repair in normal human, xeroderma pigmentosum variant and Cockayne’s syndrome fibroblasts to inhibition by cytosine arabinoside;Cleaver;J Cell Physiol,1981

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