Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. [electronic resource]
Producer: 20130317Description: 754-9 p. digitalISSN:- 1537-6605
- Adaptor Proteins, Vesicular Transport
- Alleles
- Carrier Proteins -- genetics
- Chromosomes, Human, Pair 15 -- genetics
- Codon, Nonsense
- Exome
- Female
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Keratinocytes -- metabolism
- Keratoderma, Palmoplantar -- genetics
- Male
- Pedigree
- Protein Biosynthesis
- RNA, Messenger -- genetics
- Sequence Analysis, DNA -- methods
- Skin Diseases -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.