Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia

Journal of Investigative Dermatology

Volumn 111, Issue 5, 1998, Pages 791-796

  Khan, S G ^a   Levy, H L ^a   Legerski, R ^a   Quackenbush, E ^a   Reardon, J T ^a   Emmert, S ^a   Sancar, A ^a   Li, L ^a   Schneider, T D ^a   Cleaver, J E ^a   Kraemer, K H ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Alternative splicing; Amino acid metabolism; DNA repair; Skin cancer

Indexed keywords

GLYCINE; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; AMINO ACID DEFICIENCY; ARTICLE; AUTISM; CASE REPORT; DNA REPAIR; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; HYPERACTIVITY; MALE; MUTISM; NUCLEOTIDE SEQUENCE; ORAL DRUG ADMINISTRATION; PHOTOSENSITIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN CANCER; SKIN FIBROBLAST; XERODERMA PIGMENTOSUM;

EID: 0031738328     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00391.x     Document Type: Article

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