New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone

Identification of a novel mutation (A268

Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance

✍ 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