𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene

✍ Scribed by Niizeki, H.; Shiohama, A.; Sasaki, T.; Seki, A.; Kabashima, K.; Otsuka, A.; Kosaki, K.; Ogo, A.; Yamada, T.; Miyasaka, M.; Matsuoka, K.; Hirakiyama, A.; Okuyama, T.; Matsuda, M.; Nakabayashi, K.; Tanese, K.; Ishiko, A.; Amagai, M.; Kudoh, J.


Book ID
124132940
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
489 KB
Volume
75
Category
Article
ISSN
0923-1811

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Recurrence of a nonsense mutation in the
✍ Xavier Estivill; Conxi LΓ‘zaro; Teresa Casals; Anna Ravella πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 421 KB

The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We h