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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

✍ Scribed by Nakano, Motoi; Yamada, Koki; Fain, Jennifer; Sener, Emin C.; Selleck, Carol J.; Awad, Abdulaziz H.; Zwaan, Johan; Mullaney, Paul B.; Bosley, Thomas M.; Engle, Elizabeth C.


Book ID
109919665
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
719 KB
Volume
29
Category
Article
ISSN
1061-4036

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Homozygous mutation of the PHOX2B gene i
✍ Delphine Trochet; LoΓ―c de Pontual; Maria Helena EstΓͺvao; Yves Mathieu; Arnold Mu πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 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