𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations of the RET-GDNF Signaling Pathway in Ondine's Curse

✍ Scribed by Jeanne Amiel; Rémi Salomon; Tania Attié; Anna Pelet; Ha Trang; Mustapha Mokhtari; Claude Gaultier; Arnold Munnich; Stanislas Lyonnet

Book ID
117852328
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
233 KB
Volume
62
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Homozygous mutation of the PHOX2B gene i
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)
✍ Delphine Trochet; Loïc de Pontual; Maria Helena Estêvao; Yves Mathieu; Arnold Mu 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 495 KB

Homozygosity for a dominant allele is relatively rare and preferentially observed in communities with high inbreeding. According to the definition of true dominance, similar phenotypes should be observed in patients heterozygous and homozygous for a dominant mutation. However, the homozygous phenoty