𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of a newde novomutation at codon 251 of exon 8 of thyroid hormone receptor β gene in an Italian kindred with resistance to thyroid hormone

✍ Scribed by Macchia, Enrico; Agostini, M.; Sarkissian, G.; Giorgilli, G.; Canale, D.; Scartabelli, G.; Margotat, A.; Torresani, J.; Pinchera, A.


Book ID
125337175
Publisher
Springer-Verlag
Year
1998
Tongue
English
Weight
930 KB
Volume
21
Category
Article
ISSN
0391-4097

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of a novel mutation (A268
✍ Pascal Jézéquel; Isabelle Guilhem; Jean Pierre Hespel; André Le Treut; Jean Yves 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 1 views

## MUTATION NOTES PCR-SSCP and the protein truncation test (PTT), which utilises in v i m transcription-translation to detect mutations that result in the introduction of a permature stop codon and thus to a truncated protein (van der Luijt et al., 1994). Exons 1-14 of the APC gene were PCR amplif