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Genotype and clinical phenotype analysis of a Family with Kennedy disease
To investigate the clinical phenotype-genotype correlations of a family with Kennedy disease (KD) and improve our understanding of the disease. KD was confirmed after clinical phenotypic analyses, laboratory tests, polymerase chain reaction assays for cytosine-adenine-guanine (CAG) repeats, and neur...
Autores principales: | Cai, Ben-Chi, Zhong, Li-Fan, Liu, Yan-Hui, Sui, Zhi-Yan, Yang, Qiang, Zeng, Dan-Ting, Li, Xi, Xu, Wen-Di, Chen, Tao |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101244/ https://www.ncbi.nlm.nih.gov/pubmed/37058074 http://dx.doi.org/10.1097/MD.0000000000033502 |
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