𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Plakophilin 1: Partial genomic organisation and mutations resulting in ectodermal dysplasia/skin fragility syndrome

✍ Scribed by McGrath, John A.; McMillan, James R.; Hoeger, Peter H.; Mellerio, Jemima E.; Ashton, Gabrielle H.S.; Harper, John I.; Eady, Robin A.J.


Book ID
119561787
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
210 KB
Volume
16
Category
Article
ISSN
0923-1811

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Preimplantation genetic diagnosis of com
✍ Alan R. Thornhill; Susan J. Pickering; Neil V. Whittock; Jenny Caller; Vicky And πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 253 KB πŸ‘ 2 views

A new form of genodermatosis resulting from mutations in the gene plakophilin 1 (PKP1) has recently been identified. The clinical features of a functional knockout of PKP1 are a combination of skin fragility and a form of hypohydrotic ectodermal dysplasia. We have developed a single cell polymerase