✦ LIBER ✦
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa
✍ Scribed by Josef Finsterer; Günther Regelsberger; Till Voigtländer
- Book ID
- 119302509
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 128 KB
- Volume
- 266
- Category
- Article
- ISSN
- 0022-510X
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