日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria

NDRG1基因中新型创始突变的鉴定和表征:完善保加利亚夏科-马里-图斯病4D型的遗传图谱

Atkinson, Derek; Chamova, Teodora; Candayan, Ayse; Kastreva, Kristina; Asenov, Ognian; Litvinenko, Ivan; Estrada-Cuzcano, Alejandro; De Vriendt, Els; Kukushev, Georgi; Tournev, Ivailo; Jordanova, Albena

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

采用MLPA结合靶向NGS技术检测秘鲁疑似DMD/DMB患者肌营养不良蛋白基因突变。

Guevara-Fujita, María Luisa; Huaman-Dianderas, Francia; Obispo, Daisy; Sánchez, Rodrigo; Barrenechea, Victor; Rojas-Málaga, Diana; Estrada-Cuzcano, Alejandro; Trubnykova, Milana; Cornejo-Olivas, Mario; Marca, Victoria; Gallardo, Bertha; Dueñas-Roque, Milagros; Protzel, Ana; Castañeda, Carlos; Abarca, Hugo; Celis, Luis; La Serna-Infantes, Jorge; Fujita, Ricardo

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

鞘氨醇-1-磷酸裂解酶缺乏症会导致夏科-马里-图斯神经病

Atkinson Derek, Nikodinovic Glumac Jelena, Asselbergh Bob, Ermanoska Biljana, Blocquel David, Steiner Regula, Estrada-Cuzcano Alejandro, Peeters Kristien, Ooms Tinne, De Vriendt Els, Yang Xiang-Lei, Hornemann Thorsten, Milic Rasic Vedrana, Jordanova Albena

Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12

通过对 2p12-q12 染色体上的四核苷酸重复序列进行数据挖掘,发现了青光眼基因座 GLC1B 的三个新的多态性微卫星标记。

Murga-Zamalloa, Carlos; Guevara-Fujita, Maria Luisa; Estrada-Cuzcano, Alejandro; Fujita, Ricardo