Het Bloom-syndroom in Nederland-Reference-Cited by-同舟云学术

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Het Bloom-syndroom in Nederland

Published:2013-12 Issue:6 Volume:81 Page:148-158
ISSN:0376-7442
Container-title:Tijdschrift voor Kindergeneeskunde
language:nl
Short-container-title:TIJDSCHR. KINDERGENEESKUNDE

Author:

Hopman S.M.J.,Merks J.H.M.,Bijlsma E.K.,Boot H.,Knegt A.C.,Langenhorst V.,Schoenaker M.H.D.,Stuurman K.E.,Verheij J.B.G.M.,Wagner A.,Weemaes C.M.,Zwijnenburg P.J.G.,Michiels E.,Kluijt I.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s12456-013-0178-8.pdf

Reference28 articles.

1. Shahrabani-Gargir L, Shomrat R, Yaron Y, et al. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet Test. 1998;2:293–6.

2. Li L, Eng C, Desnick RJ, German J, Ellis NA. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab. 1998;64:286–90.

3. Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test. 1999; 3:219–21.

4. Ellis NA, Ciocci S, Proytcheva M, et al. The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet. 1998;63:1685–93.

5. German J, Bloom D, Passarge E. Bloom’s syndrome XI. Progress report for 1983. Clin Genet. 1984;25:166–74.

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