Catalogue Search | MBRL
Are you sure you want to remove the book from the shelf?
{{itemTitle}}
3
result(s) for
"Roberts, Eryl O"
Sort by:
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in
FRMD7
in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of
FRMD7
in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
Journal Article
Correction: Corrigendum: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author list. The error has been corrected in the HTML and PDF versions of the article.
Journal Article