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- [31] Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2016, 155 : 63 - 66
- [35] Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene MOLECULAR VISION, 2008, 14 (185-86): : 1549 - 1558
- [39] Autosomal dominant pattern dystrophy -: Identification of a novel splice site mutation in the peripherin/RDS gene RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2005, 25 (08): : 999 - 1004