Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

A. Ulgenalp; C. Randa; D. Onur Cura; E. Ataman; O. Aksel; Ozlem Giray Bozkaya; S. Gürsoy

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Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

机译：两名土耳其综合征患者的CHD7基因的三个新突变;双点突变和插入

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《Balkan journal of medical genetics: BJMG》 |2015年第1期|共页
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A. Ulgenalp; C. Randa; D. Onur Cura; E. Ataman; O. Aksel; Ozlem Giray Bozkaya; S. Gürsoy;
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中图分类遗传学;
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1. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. [J] . Vuorela P, Ala-Mello S, Saloranta C, Genetics in medicine . 2007,第10期

机译：CHARGE综合征中CHD7基因的分子分析：鉴定22个新突变和证据表明CHD7大缺失的低贡献。
2. Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype [J] . CappuccioG., GinocchioV.M., MaffèA., Clinical Genetics: An International Journal of Genetics in Medicine . 2014,第2期

机译：查明两名经典和非典型CHARGE综合征表型患者CHD7基因的两个新的剪接位点突变
3. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome. [J] . Michelucci A, Ghirri P, Iacopetti P, International journal of pediatric otorhinolaryngology . 2010,第12期

机译：在具有典型或非典型CHARGE综合征临床体征的患者中鉴定CHD7基因的三个新突变。
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion [O] . O Giray Bozkaya, E Ataman, C Randa, 2019

机译：两名土耳其患有电荷综合征的患者中CHD7基因的三个新突变；双点突变和插入
7. Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion [O] . Giray Bozkaya Ozlem, Ataman E., Randa C., 2015

机译：两名土耳其患者充电综合征CHD7基因的三个新突变;双点突变和插入

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

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