✦ LIBER ✦

An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome

✍ Scribed by Pauline Balraj; Pat Concannon; Rahman Jamal; Alessandro Beghini; T.S. Hoe; Alan Soobeng Khoo; Ludovica Volpi

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Biochemical characterization of the RECQ

✍ Margaret A. Macris; Lumir Krejci; Wendy Bussen; Akira Shimamoto; Patrick Sung 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 340 KB

Atypical Rothmund-Thomson syndrome in a

✍ Yves Sznajer; H. Annika Siitonen; Gaia Roversi; Chantal Dangoisse; Michèle Scail 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 254 KB

Novel C1q mutation in an homozygous C1q-

✍ Lopez-Lera, A.; Torres-Canizales, J.; Garrido, S.; Morales, A.; Lopez-Trascasa, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 70 KB

An unusual mutation in the XPG gene lead

✍ Lehmann, J.; Schubert, S.; Schäfer, A.; Apel, A.; Laspe, P.; Schiller, S.; Ohlen 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

An unusual intronic mutation in the CYBB

✍ Deborah Noack; Paul G. Heyworth; Peter E. Newburger; Andrew R. Cross 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 685 KB

Variable expressivity of a novel mutatio

✍ A.A. Mhanni; J.N. Hartley; W.G. Sanger; A.E. Chudley; E.L. Spriggs 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 155 KB