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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...
Autores principales: | Sharma, Vikas, Thangaraj, Kumarasamy, Jyothy, Akka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2013
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Materias: | |
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 |
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