Three novel mutations responsible for Cockayne syndrome group A

Genes and Genetic Systems

Volumn 78, Issue 1, 2003, Pages 93-102

  Ren, Yan ^a   Saijo, Masafumi ^a,b   Nakatsu, Yoshimichi ^a,e   Nakai, Hiroshi ^c   Yamaizumi, Masaru ^d   Tanaka, Kiyoji ^a,b  

^a OSAKA UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c Hachinohe National Hospital   (Japan)

^d KUMAMOTO UNIVERSITY   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

Author keywords

Cockayne syndrome; CSA gene; Mutation; Transcription coupled repair

Indexed keywords

COCKAYNE SYNDROME PROTEIN A; COCKAYNE SYNDROME PROTEIN B; GENE PRODUCT; GLUTAMINE; PROLINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COCKAYNE SYNDROME; COMPLEX FORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA TRANSCRIPTION; EXCISION REPAIR; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; JAPAN; MENTAL DEFICIENCY; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PHOTOSENSITIVITY; POLYMERASE CHAIN REACTION; PROTEIN MOTIF; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ULTRAVIOLET RADIATION;

AMINO ACID SUBSTITUTION; BLOTTING, SOUTHERN; COCKAYNE SYNDROME; DNA REPAIR ENZYMES; HUMANS; MUTATION; POINT MUTATION; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 0037303105     PISSN: 13417568     EISSN: None     Source Type: Journal    
DOI: 10.1266/ggs.78.93     Document Type: Article

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