Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.

Abstract excerpt

BACKGROUND: To date, more than 100 mutations of NR5A1 have been reported; however, mutations affecting the splice site are rare, with only two reported mutations. OBJECTIVE: To characterize the c.870+3_6delGAGT splice mutation of NR5A1 through molecular analyses. RESULTS: The reverse transcription polymerase chain reaction (RT-PCR) study revealed that c.870+3_6delGAGT resulted in p.A82fs*95. Mutant NR5A1 showed a...

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