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Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil

机译：Seipin和AgPat2基因在近亲家族中聚集的突变与巴西的两个单独地理区域的Berardinelli-Seip先天性脂肪脂肪

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Karina Braga Gomes; Ana Paula Fernandes; Alessandro Clayton Souza Ferreira; Hermes Pardini; Abhimanyu Garg; Jocelyne Magré; Victor Cavalcanti Pardini;
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1. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. [J] . Gomes KB, Pardini VC, Ferreira AC, Journal of inherited metabolic disease . 2005,第6期

机译：生化参数的表型异质性与Berardinelli-Seip先天性脂肪营养不良患者中AGPAT2或Seipin基因的突变相关。
2. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. [J] . Miranda DM, Wajchenberg BL, Calsolari MR Clinical Endocrinology . 2009,第4期

机译：患有Berardinelli-Seip先天性全身性脂肪营养不良综合征的10个家庭的BSCL2和AGPAT2基因的新型突变。
3. Founder Effect of the 669insA Mutation in BSCL2 Gene Causing Berardinelli-Seip Congenital Lipodystrophy in a Cluster from Brazil [J] . K. B. Gomes, V. C. Pardini, A. C. S. Ferreira, Annals of Human Genetics . 2007,第6期

机译：导致来自巴西的贝拉迪内利-塞普先天性脂肪营养不良的BSCL2基因669insA突变的创始人效应。
4. Analysis of DNA damage induced by 2-hydroxy amino-1-methyl-6-phenyl-imidazo[4,5-b]pyridine (N-OH-PhIP) in the mutation cluster region of the human APC gene. [D] . Qian, Zheng. 2003

机译：分析人类APC基因突变簇区域中的2-羟基氨基-1-甲基-6-苯基-咪唑并[4,5-b]吡啶（N-OH-PhIP）诱导的DNA损伤。
5. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects [O] . Mao Fu, Rasa Kazlauskaite, Maria De Fátima Paiva Baracho, -1

机译：Berardinelli-Seip先天性脂肪营养不良和Brunzell综合征的Gng3lg和AGPAT2突变：表型变异表明重要的修饰因子作用
6. The Human Lipodystrophy Gene Product Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Plays a Key Role in Adipocyte Differentiation [O] . Chen, Weiqin, Yechoor, Vijay K., Chang, Benny Hung-Junn, 2009

机译：人类脂肪营养不良基因产物Berardinelli-Seip先天性脂肪营养不良2 / Seipin在脂肪细胞分化中起关键作用

Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil

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