Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281Δ6ins7 mutation

Genetic Testing

Volumn 3, Issue 2, 1999, Pages 219-221

  Roa, Benjamin B ^a   Savino, Carlo V ^a   Richards, C Sue ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HELICASE; OLIGONUCLEOTIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CHROMOSOME 15Q; CLINICAL FEATURE; CONTROLLED STUDY; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JEW; MAJOR CLINICAL STUDY; POPULATION RESEARCH;

EID: 0032789471     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1999.3.219     Document Type: Article

References (10)

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2. DEMARCHI, J.M., CASKEY, C.T., and RICHARDS, C.S. (1996). Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum. Mutat. 8, 116-125.
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9. ROA, B.B., BOYD, A.A., VOLCIK, K., and RICHARDS, C.S. (1996). Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genet. 14, 185-187.
10. STRAUGHEN, J.E., JOHNSON, J., McLAREN, D., PROYTCHEVA, M., ELLIS, N., GERMAN, J., and GRODEN, J. (1998). A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. Hum. Mutat. 11, 175-178.