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Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease

BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (V...

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Detalles Bibliográficos
Autores principales: Si, Nuo, Zheng, Ke, Ma, Jie, Meng, Xiao-Lu, Li, Xue-Mei, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5684639/
https://www.ncbi.nlm.nih.gov/pubmed/29052568
http://dx.doi.org/10.4103/0366-6999.216408