Pedigrees of the families that was available for mutation analysis.
- Katsuhiro Hosono (182558)
- Chie Ishigami (182563)
- Masayo Takahashi (164336)
- Dong Ho Park (182573)
- Yasuhiko Hirami (182578)
- Hiroshi Nakanishi (182585)
- Shinji Ueno (103010)
- Tadashi Yokoi (182592)
- Akiko Hikoya (182596)
- Taichi Fujita (182603)
- Yang Zhao (39052)
- Sachiko Nishina (182609)
- Jae Pil Shin (182612)
- In Taek Kim (182614)
- Shuichi Yamamoto (182616)
- Noriyuki Azuma (168539)
- Hiroko Terasaki (168137)
- Miho Sato (182621)
- Mineo Kondo (168134)
- Shinsei Minoshima (3054)
- Yoshihiro Hotta (182630)
Publication date
February 2012
DOIAbstract
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y2956X (M3), p.Y841X (M4), or p.G2186E (M5) detected to segregate with RP. M1/M1 represents homozygous mutation. M1/+ indicates heterozygous carriers, +/+ indicates individuals carrying 2 wild-type alleles, whereas M1/M2 represents individuals presenting both mutations as compound heterozygous. Square boxes indicate men, circles denote women, and affected individuals are pointed out by a black symbol. Slashed symbols indicate deceased individuals. The probands are indicated with an arrow. NA denotes unavailable DNA samples.</p
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