✦ LIBER ✦

Investigations on a clinically and functionally unusual and novel germline p53 mutation

✍ Scribed by Rutherford, J; Chu, C E; Duddy, P M; Charlton, R S; Chumas, P; Taylor, G R; Lu, X; Barnes, D M; Camplejohn, R S

Book ID: 109997234
Publisher: Nature Publishing Group
Year: 2002
Tongue: English
Weight: 157 KB
Volume: 86
Category: Article
ISSN: 0007-0920
DOI: 10.1038/sj.bjc.6600269

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel p53 germline mutation in a patient

Novel p53 germline mutation in a patient with Li−Fraumeni syndrome

✍ S. S. Wong; G. Lozano; C. L. Gaff; R. J. M. Gardner; L. C. Strong; K. Aittomäk 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 169 KB

Identification and characterization of a

Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer

✍ Hidetaka Yamada; Kazuya Shinmura; Yasuhiro Yamamura; Kiyotaka Kurachi; Toshio Na 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 French ⚖ 507 KB

## Abstract Germline mutations in the __p53__ tumor suppressor gene have been identified in patients with Li‐Fraumeni syndrome (LFS) and patients with Li‐Fraumeni‐like syndrome (LFL). However, to date, germline __p53__ mutations in patients not fulfilling the criteria of LFS or LFL have been report

Functional studies of a novel germline p

Functional studies of a novel germline p53 splicing mutation identified in a patient with Li–Fraumeni-like syndrome

✍ Jinhua Piao; Naoto Sakurai; Shotaro Iwamoto; Junji Nishioka; Kaname Nakatani; Yo 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB

Screening of p53 mutations in lung cance

Screening of p53 mutations in lung cancers using a yeast functional assay: Investigation of relationship between p53 mutations and pulmonary fibrosis or clinical parameters

✍ Sasaki, J; Moriyama, E; Matsumoto, M; Saya, H; Ando, M 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 118 KB

A novel germline CDKN1B mutation causing

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization

✍ Sara Molatore; Ilaria Marinoni; Misu Lee; Elke Pulz; Maria Rosaria Ambrosio; Ett 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 467 KB

Multiple endocrine neoplasia (MEN) syndromes are characterized by tumors involving two or more endocrine glands. Two MEN syndromes have long been known: MEN1 and MEN2, caused by germline mutations in __MEN1__ or __RET__, respectively. Recently, mutations in __CDKN1B__, encoding the cyclin-dependent

p53 Germline mutation in a patient with

p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies

✍ Claudia Pötzsch; Theda Voigtländer; Michael Lübbert 📂 Article 📅 2002 🏛 Springer-Verlag 🌐 English ⚖ 124 KB