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The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews.
Fam Cancer. 2005;4(2):85-8. doi: 10.1007/s10689-004-2101-z.
Fam Cancer. 2005.
PMID: 15951957
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E.
Pras E, et al. Among authors: bakhan t.
Am J Hum Genet. 2002 May;70(5):1363-7. doi: 10.1086/340318. Epub 2002 Mar 26.
Am J Hum Genet. 2002.
PMID: 11917274
Free PMC article.
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Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nöthen MM, Pras E.
Levy-Nissenbaum E, et al. Among authors: bakhan t.
Nat Genet. 2003 Jun;34(2):151-3. doi: 10.1038/ng1163.
Nat Genet. 2003.
PMID: 12754508
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A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.
Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M.
Pras E, et al. Among authors: bakhan t.
Isr Med Assoc J. 2001 Aug;3(8):559-62.
Isr Med Assoc J. 2001.
PMID: 11519376
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A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E.
Pras E, et al. Among authors: bakhan t.
Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3511-5.
Invest Ophthalmol Vis Sci. 2000.
PMID: 11006246
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