一个常染色体显性β地中海贫血家系的分子遗传学研究(5)
[14]Shimizu K， Nagaoka E， Okada Y， Takeuchi Y， Harihara S， Omoto K， Imanishi T， Kim W， Shin DJ， Hao L， Jin F Characteristics of the betaglobin gene cluster haplotypes of three Han Chinese populations at Beijing， Xian， and Kunming as compared with those of other Asian populations Biochem Genet，2008，46(910)：566582
[15]Gibney GT， Panhuysen CI， So JC， Ma ES， Ha SY， Li CK， Lee AC， Li CK， Yuen HL， Lau YL， Johnson DM， Farrell JJ， Bisbee AB， Farrer LA， Steinberg MH， Chan LC， Chui DH Variation and heritability of Hb F and Fcells among betathalassemia heterozygotes in Hong Kong Am J Hematol，2008，83(6)：458464
, http://www.100md.com
[16]Sedgewick AE， Timofeev N， Sebastiani P， So JCC， Ma ESK， Chan LC， Fucharoen G， Fucharoen S， Barbosa CG， Vardarajan BN， Farrer LA， Baldwin CT， Steinberg MH， Chui DHK BCL11A is a major HbF quantitative trait locus in three different populations with betahemoglobinopathies Blood Cells Mol Dis，2008，41(3)：255258
[17]So CC， Song YQ， Tsang ST， Tang LF， Chan AY， Ma ES， Chan LC The HBS1LMYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of betathalassaemia J Med Genet，2008，45(11)：745751
, 百拇医药
[18]Perkins A， Xu X， Higgs DR， Patrinos GP， Arnaud L， Bieker JJ， Philipsen S； KLF1 Consensus Workgroup Krüppeling erythropoiesis： an unexpected broad spectrum of human RBC disorders due to KLF1 variants Blood，2016，127(15)： 18561862
[19]Girodon E， Ghanem N， Vidaud M， Riou J， Martin J， Galactéros F， Goossens M Rapid molecular characterization of mutations leading to unstable hemoglobin betachain variants Ann Hematol，1992，65(4)：188192
, http://www.100md.com
[20]Haghi M， Khorshidi S， Hosseinpour Feizi MA， Pouladi N， Hosseinpour Feizi AA BetaThalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces Hemoglobin，2009，33(2)：109114
[21]BaudinChich V， Wajcman H， GombaudSaintonge G， Arous N， Riou J， Brière J， Galacteros F Hemoglobin Brest [beta 127 (H5) GlnLys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior Hemoglobin，1988，12(2)：179188
, 百拇医药
[22]Hall GW， Franklin IM， Sura T， Thein SL A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype Br J Haematol，1991，79(2)：342344
[23]Kazazian HH Jr， Dowling CE， Hurwitz RL， Coleman M， Stopeck A， Adams JG 3rd Dominant thalassemialike phenotypes associated with mutations in exon 3 of the betaglobin gene Blood，1992，79(11)：30143018
[24]Fucharoen S， Fucharoen G， Fukumaki Y， Nakayama Y， Hattori Y， Yamamoto K， Ohba Y Threebase deletion in exon 3 of the betaglobin gene produced a novel variant (beta gunma) with a thalassemialike phenotype Blood，1990，76(9)：18941896, 百拇医药(黄霜 甘钊杏 蒋玮莹 陈素琴)
[15]Gibney GT， Panhuysen CI， So JC， Ma ES， Ha SY， Li CK， Lee AC， Li CK， Yuen HL， Lau YL， Johnson DM， Farrell JJ， Bisbee AB， Farrer LA， Steinberg MH， Chan LC， Chui DH Variation and heritability of Hb F and Fcells among betathalassemia heterozygotes in Hong Kong Am J Hematol，2008，83(6)：458464
, http://www.100md.com
[16]Sedgewick AE， Timofeev N， Sebastiani P， So JCC， Ma ESK， Chan LC， Fucharoen G， Fucharoen S， Barbosa CG， Vardarajan BN， Farrer LA， Baldwin CT， Steinberg MH， Chui DHK BCL11A is a major HbF quantitative trait locus in three different populations with betahemoglobinopathies Blood Cells Mol Dis，2008，41(3)：255258
[17]So CC， Song YQ， Tsang ST， Tang LF， Chan AY， Ma ES， Chan LC The HBS1LMYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of betathalassaemia J Med Genet，2008，45(11)：745751
, 百拇医药
[18]Perkins A， Xu X， Higgs DR， Patrinos GP， Arnaud L， Bieker JJ， Philipsen S； KLF1 Consensus Workgroup Krüppeling erythropoiesis： an unexpected broad spectrum of human RBC disorders due to KLF1 variants Blood，2016，127(15)： 18561862
[19]Girodon E， Ghanem N， Vidaud M， Riou J， Martin J， Galactéros F， Goossens M Rapid molecular characterization of mutations leading to unstable hemoglobin betachain variants Ann Hematol，1992，65(4)：188192
, http://www.100md.com
[20]Haghi M， Khorshidi S， Hosseinpour Feizi MA， Pouladi N， Hosseinpour Feizi AA BetaThalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces Hemoglobin，2009，33(2)：109114
[21]BaudinChich V， Wajcman H， GombaudSaintonge G， Arous N， Riou J， Brière J， Galacteros F Hemoglobin Brest [beta 127 (H5) GlnLys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior Hemoglobin，1988，12(2)：179188
, 百拇医药
[22]Hall GW， Franklin IM， Sura T， Thein SL A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype Br J Haematol，1991，79(2)：342344
[23]Kazazian HH Jr， Dowling CE， Hurwitz RL， Coleman M， Stopeck A， Adams JG 3rd Dominant thalassemialike phenotypes associated with mutations in exon 3 of the betaglobin gene Blood，1992，79(11)：30143018
[24]Fucharoen S， Fucharoen G， Fukumaki Y， Nakayama Y， Hattori Y， Yamamoto K， Ohba Y Threebase deletion in exon 3 of the betaglobin gene produced a novel variant (beta gunma) with a thalassemialike phenotype Blood，1990，76(9)：18941896, 百拇医药(黄霜 甘钊杏 蒋玮莹 陈素琴)