Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6

American Journal of Medical Genetics, Part A

Volumn 146, Issue 11, 2008, Pages 1423-1429

  Falik Zaccai, Tzipora C ^a,b   Laskar, Meital ^a,c   Kfir, Nechama ^a   Nasser, Wael ^a   Slor, Hanoch ^c   Khayat, Morad ^a  

^a WESTERN GALILEE HOSPITAL   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

Cockayne syndrome; DNA repair mechanism; Nucleotide excision repair (NER); Transcription coupled repair (TCR)

Indexed keywords

ESTERASE; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 6;

ADIPOSE TISSUE; ARTICLE; CASE REPORT; CATARACT; COCKAYNE SYNDROME; COCKAYNE SYNDROME TYPE 2; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; DISORDERS OF DNA SYNTHESIS AND REPAIR; EXON; EYE DISEASE; FIBROBLAST; GENE FREQUENCY; GENE INSERTION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; ISRAEL; JOINT CONTRACTURE; KYPHOSIS; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CELLS, CULTURED; CHILD, PRESCHOOL; COCKAYNE SYNDROME; CONSANGUINITY; CYTOGENETIC ANALYSIS; DNA HELICASES; DNA REPAIR; DNA REPAIR ENZYMES; ETHNIC GROUPS; FEMALE; FIBROBLASTS; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; ISRAEL; MALE; MUTAGENESIS, INSERTIONAL; PEDIGREE; PHYSICAL EXAMINATION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; TRANSFECTION; ULTRAVIOLET RAYS;

EID: 44449119994     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32309     Document Type: Article

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