Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.

Human Xp22.1 contains genes involved in mineral balance that are implicated in X-linked hypophosphatemia (XLH) in humans, its murine homologue (Hyp), and another distinct murine hypophosphatemic disorder (Gy). In XLH, a gene, PEX, has been found to be mutated in up to 83% of patients but the sequenc...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Grieff, M, Whyte, M, Thakker, R, Mazzarella, R
Format: Journal article
Język:English
Wydane: 1997