Molecular analysis of 22 patients with mucopolysaccharidosis IVA from Poland, Belarus and Kazakhstan identifies 6 novel GALNS mutations

Tylki-Szymanska Anna; Rozdzynska-Swiatkowska Agnieszka; Marucha Jolanta; Kulpanovich Anna; Tulebayeva Assel; Jurecka Agnieszka

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Molecular analysis of 22 patients with mucopolysaccharidosis IVA from Poland, Belarus and Kazakhstan identifies 6 novel GALNS mutations

机译：来自波兰，白俄罗斯和哈萨克斯坦的22例黏多糖贮积症IVA的分子分析确定了6个新的GALNS突变

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《Molecular genetics and metabolism》 |2016年第2期|共1页
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Tylki-Szymanska Anna; Rozdzynska-Swiatkowska Agnieszka; Marucha Jolanta; Kulpanovich Anna; Tulebayeva Assel; Jurecka Agnieszka;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Molecular analysis of 22 patients with mucopolysaccharidosis IVA from Poland, Belarus and Kazakhstan identifies 6 novel GALNS mutations [J] . Tylki-Szymanska Anna, Rozdzynska-Swiatkowska Agnieszka, Marucha Jolanta, Molecular genetics and metabolism . 2016,第2期

机译：来自波兰，白俄罗斯和哈萨克斯坦的22例黏多糖贮积症IVA的分子分析确定了6个新的GALNS突变
2. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations (vol 112, pg 160, 2014) [J] . Morrone A., Tylee K. L., Al-Sayed M., Molecular genetics and metabolism . 2014,第3期

机译：对163名Morquio A（黏多糖贮积症IVA）患者的分子检测发现了39个新的GALNS突变（vol 112，pg 160，2014）
3. Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation [J] . Lina Johanna Moreno Giraldo, ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, Molecular Genetics and Metabolism Reports . 2018,第2期

机译：哥伦比亚粘多糖贮积症IVA患者的临床和分子特征，以及新的galns基因突变的描述
4. Protein Analysis of Exon 8 Mutation in Iduronate 2-Sulfatase Gene in Mucopolysaccharidosis Type II Patients in Indonesia [C] . Anggia Nurwulan Kusno Putri, Steven Arianto, Rizky Priambodo, International Symposium of Biomedical Engineering . 2019

机译：印度尼西亚黏膜多种术患者锰酸二磺酸盐酶II型患者近磺酸2-硫酸酶基因的外显子8突变蛋白质分析
5. The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group. [D] . Honda, Stacey Ann Akemi. 2002

机译：分子诊断在两种疾病过程中的临床病理相关性中的意义：急性疾病中PSA血清水平，以及血栓形成患者和对照患者（按种族）的活化蛋白C抗性和因子V突变的患病率。
6. Molecular Testing of 163 Patients with Morquio A (Mucopolysaccharidosis IVA) Identifies 39 Novel GALNS Mutations [O] . A Morrone, K.L. Tylee, M Al-Sayed, -1

机译：对163名Morquio A（黏多糖贮积症IVA）患者的分子检测鉴定了39种新的GALNS突变
7. Molecular Analysis of GALNS Gene in eight Iranian Patients with Mucopolysaccharidosis IVA [O] . Seyed Hosseiali Saberi, Behnam Kamalidehghan, Shahla Farshidi, 2021

机译：八伊朗粘多糖尿病IVA患者GALNS基因的分子分析

Molecular analysis of 22 patients with mucopolysaccharidosis IVA from Poland, Belarus and Kazakhstan identifies 6 novel GALNS mutations

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