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Single nucleotide polymorphisms in theRETgene and their correlations with Hirschsprung disease phenotype

✍ Scribed by Robert Śmigiel; Arleta Lebioda; Dariusz Patkowski; Jerzy Czernik; Tadeusz Dobosz; Karolina Pesz; Monika Kaczmarz; Maria M. Sąiadek


Publisher
Springer-Verlag
Year
2006
Tongue
English
Weight
173 KB
Volume
47
Category
Article
ISSN
1234-1983

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Novel intronic polymorphisms in the RET
✍ Guido Fitze; Mandy Schierz; Eberhard Kuhlisch; Matthias Schreiber; Andreas Ziegl 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB

Germline mutations of the RET proto-oncogene have been found in familial and sporadic forms of Hirschsprung disease (HSCR), but also in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes, which comprise the medullary thyroid carcinoma (MTC) as an obligatory featu