Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

Characterization of a partial pseudogene

Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection

✍ Andreas Braun; Stefan Kammerer; Helmut Ambach; Adelbert A. Roscher 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB 👁 2 views

## Communicated Jean-Louis M a d l The gene for the most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD, Mc-Kusick #300100), encodes a peroxisomal membrane transporter protein (ALDP), and comprises 10 exons spanning approximately 21 kb. So far, however, the mutation analysis at