✦ LIBER ✦

A novel germline point mutation, c.2304 G→T, in codon 768 of theRETproto-oncogene in a patient with medullary thyroid carcinoma

✍ Scribed by Antiñolo, Guillermo ;Marcos, Irene ;Fernández, Raquel María ;Romero, Matilde ;Borrego, Salud

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 94 KB
Volume: 110
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10399

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel point mutation in exon 10 of theRE

Novel point mutation in exon 10 of theRET proto-oncogene in a family with medullary thyroid carcinoma

✍ Oriola, Josep; P�ramo, Concepci�n; Halperin, Irene; Garc�a-Mayor, Ricardo V.; Ri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

Medullary thyroid carcinoma (MTC) may occur sporadically or as part of the autosomal dominant multiple endocrine neoplasia type 2 (MEN 2). Three hereditary forms of MEN 2 have been identified: MEN 2A, MEN 2B, and familial MTC (FMTC). Missense germ-line mutations in the RET protooncogene have been id

Identification of a novel somatic mutati

Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma

✍ Xavier Matias-Guiu; Elena Lagarda; Monica Calaf; Arturo Azpiroz; Alberto De Leiv 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 2 views

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of