Dolichol kinase deficiency
| Dolichol kinase deficiency | |
|---|---|
| Classification and external resources | |
| OMIM | 610768 |
Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.[1][2]
It is also known as Congenital disorder of glycosylation 1m.
See also
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ↑ Kranz C, Jungeblut C, Denecke J, et al. (March 2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". Am. J. Hum. Genet. 80 (3): 433–40. doi:10.1086/512130. PMC 1821118. PMID 17273964.
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