A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea()

OBJECTIVE: To report a novel single nucleotide insertion mutation, and present the clinical, genetic, biochemical findings in a patient with primary amenorrhea. METHODS: Chromosomal analysis was performed by harvesting lymphocytes from peripheral blood sample. Hormonal analysis was performed from th...

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Detalles Bibliográficos
Autores principales: Sharma, Vikas, Thangaraj, Kumarasamy, Jyothy, Akka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287795/
https://www.ncbi.nlm.nih.gov/pubmed/25606384
http://dx.doi.org/10.1016/j.mgene.2013.10.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287795/
https://www.ncbi.nlm.nih.gov/pubmed/25606384
http://dx.doi.org/10.1016/j.mgene.2013.10.011

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