AUTOSOMAL RECESSIVE HEREDITARY SPHEROCYTOSIS IN PATIENTS WITH THE C.4339-99C> T alpha LEPRA MUTATION IN THE SPTA1 GENE

Connor Jessica; Dagaonkar Neha; Chonat Satheesh; Keddache Mehdi; Zhang Kejian; Begtrup Amber; Kalfa Theodosia; Dexheimer Phillip

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AUTOSOMAL RECESSIVE HEREDITARY SPHEROCYTOSIS IN PATIENTS WITH THE C.4339-99C> T alpha LEPRA MUTATION IN THE SPTA1 GENE

机译：SPTA1基因中C.4339-99C> T alpha丙型肝炎突变的患者的常态遗传性遗传性肝硬化

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《Pediatric blood & cancer》 |2014年第1期|共2页
作者
Connor Jessica; Dagaonkar Neha; Chonat Satheesh; Keddache Mehdi; Zhang Kejian; Begtrup Amber; Kalfa Theodosia; Dexheimer Phillip;
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正文语种 eng
中图分类儿科学;
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1. AUTOSOMAL RECESSIVE HEREDITARY SPHEROCYTOSIS IN PATIENTS WITH THE C.4339-99C> T alpha LEPRA MUTATION IN THE SPTA1 GENE [J] . Connor Jessica, Dagaonkar Neha, Chonat Satheesh, Pediatric blood & cancer . 2014,第Suppla1期

机译：SPTA1基因中C.4339-99C> T alpha丙型肝炎突变的患者的常态遗传性遗传性肝硬化
2. A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: A rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency [J] . YaishH.M., ChristensenR.D., AgarwalA. Journal of perinatology: Official journal of the California Perinatal Association . 2013,第5期

机译：新生儿伴库姆氏阴性溶血性黄疸伴球细胞但红细胞指数正常：因α-血影蛋白缺乏而引起的常染色体隐性遗传性球囊细胞增多症
3. Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia [J] . Cleeter M., Houlden H., Simons P., Amyotrophic lateral sclerosis eofficial publication of the World Federation of Neurology Research Group on Motor Neuron Diseases . 2011,第1a2期

机译：筛查常染色体隐性遗传性痉挛性截瘫的磷脂酰肌醇4-激酶2-alpha基因突变
4. Autosomal recessive hypercholesterolemia: genetics and clinical aspects [C] . Giovanni Zuliani, Renato Fellin European Symposium on Metabolism . 2003

机译：常染色体隐性高胆固醇血症：遗传学和临床方面
5. Genetics of X-linked and autosomal recessive hereditary nephropathy in the domestic dog. [D] . Bell, Rebecca Jane. 2007

机译：X连锁和常染色体隐性遗传性肾病在家犬中的遗传学。
6. Novel compound heterozygous mutations in the SPTA1 gene causing hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice [O] . Xiong Wang, Aiguo Liu, Yanjun Lu, -1

机译：SPTA1基因中的新型复合杂合突变导致库恩氏阴性溶血性黄疸新生儿遗传性球囊增多
7. A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency [O] . H M Yaish, R D Christensen, A Agarwal 2013

机译：一种带有球菌阴性溶血性黄疸的新生儿，具有球织物，但正常的红细胞指数：由于α-光谱缺乏，罕见的常染色体隐性遗传性球吞作用的罕见情况

AUTOSOMAL RECESSIVE HEREDITARY SPHEROCYTOSIS IN PATIENTS WITH THE C.4339-99C> T alpha LEPRA MUTATION IN THE SPTA1 GENE

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