Novel ATP7A gene mutation in a patient with Menkes disease
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Genetics
Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Response of Fibroblasts from Menkes’ and Wilson’s Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase;Biomolecules;2023-12-05
2. Menkes disease complicated by concurrent ACY1 deficiency: A case report;Frontiers in Genetics;2023-03-02
3. The factory, the antenna and the scaffold: the three-way interplay between the Golgi, cilium and extracellular matrix underlying tissue function;Biology Open;2023-02-15
4. Critical Points in the Methodology of Preparing Copper (II) Histidinate Injections and their Quality Assessment Applying Color Measurement;Journal of Pharmaceutical Sciences;2022-09
5. A 7‐month‐old boy with global developmental delay, hypotonia, and abnormal hair;Pediatric Dermatology;2022-07
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