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Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Two novel mutations in the sex-determining gene SRY were identified by screening DNA from 30 sex-reversed XY females by using the SSCP assay. Both point mutations lead to an amino acid substitution in the DNA-binding high-mobility-group domain of the SRY protein. The first mutation, changing a serin...

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Autori principali: Schmitt-Ney, M, Thiele, H, Kaltwasser, P, Bardoni, B, Cisternino, M, Scherer, G
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801192/
https://ncbi.nlm.nih.gov/pubmed/7717397
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