抄録
The PCR/restriction endonuclease digestion (RE) assay and PCR/SSCP analysis of the rhodopsin gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ad R p) revealed a G-A substitution of the first nucleotide of codon 181, replacing Glu (GAG) with Lys (AAG), in one family. The proband showed an early onset of symptoms in childhood with a diffuse loss of rod and cone function and a relatively good preservation of cone function, corresponding to the type with relatively rapid progression to blindness (type 1 category of ad RP).
| 本文言語 | English |
|---|---|
| ページ（範囲） | 61-67 |
| ページ数 | 7 |
| ジャーナル | Ophthalmic Genetics |
| 巻 | 15 |
| 号 | 2 |
| DOI | |
| 出版ステータス | Published - 1994 |
ASJC Scopus subject areas
- 小児科学、周産期医学および子どもの健康
- 眼科学
- 遺伝学（臨床）