Recurrent mutations in the factor IX gene: founder effect or repeat de novo events

Author:

Knobloch O.,Zoll B.,Zerres K.,Brackmann H. -H.,Olek K.,Ludwig M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference38 articles.

1. Anson DS, Choo KH, Rees DJG, Giannelli F, Gould K, Huddleston JA, Brownlee GG (1984) The gene structure of human anti-haemophilic factor IX. EMBO J 3:1053?1060

2. Bottema CDK, Ketterling RP, Cho HI, Sommer SS (1989) Hemophilia B in a male with a four-base insertion that arose in the germline of his mother. Nucleic Acids Res 17:10139

3. Bottema CDK, Koeberl DD, Ketterling RP, Bowie EJW, Taylor SAM, Lillicrap D, Shapiro A, Gilchrist G, Sommer SS (1990a) A past mutation at Isoleucine397 is now a common cause of moderate/mild haemophilia B. Br J Haematol 75:212?216

4. Bottema CDK, Ketterling RP, Yoon HS, Sommer SS (1990b) The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet 47:835?841

5. Bottema CDK, Ketterling RP, Setsuko I, Hong-Sup Y, Phillips JA III, Sommer SS (1991a) Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as ?spacer? elements. Am J Hum Genet 49:820?838

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