Exon 3缺失导致了在Exon 4的早熟终止密码子,通过免疫组化和睾丸的 Western blot 实验确认这是一种无功能基因(来源:J:307507)
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Exon 3 was deleted resulting in a premature stop codon in exon 4 and this was proven a null allele by the failure to detect the protein by immunohistochemistry and Western blot of testes. (J:307507)