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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
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