High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3091-3094

  Khayat, Morad ^a   Hardouf, Hagar ^a   Zlotogora, Joel ^b   Shalev, Stavit Allon ^a,c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

Cockayne syndrome; DNA repair mechanism; Founder mutation; Genetic screening

Indexed keywords

MEMBRANE PROTEIN; PROTEIN ERCC8; UNCLASSIFIED DRUG;

ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHRISTIAN; COCKAYNE SYNDROME; CONTROLLED STUDY; DISEASE CARRIER; EXCISION REPAIR; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; ISRAEL; MAJOR CLINICAL STUDY; MALE; PILOT STUDY; PRIORITY JOURNAL; PROTEIN DENATURATION;

ALLELES; ARABS; COCKAYNE SYNDROME; DNA REPAIR ENZYMES; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENETIC MARKERS; GENETIC TESTING; HAPLOTYPES; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; ISRAEL; MALE; MICROSATELLITE REPEATS; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PILOT PROJECTS; POLYMORPHISM, GENETIC; POPULATION GROUPS; TRANSCRIPTION FACTORS;

EID: 78649670804     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33746     Document Type: Article

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