 |
 |

Further Information Regarding KERA and Recessive Cornea Plana
 |
 |
| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
|
 |
 |
In their article about a Hispanic KERA mutation in the September 2005 issue of the ARCHIVES, Ebenezer et al1 discussed previously reported KERA mutations in a Finnish cohort,2 a Chinese-American patient,2 and a Bangladeshi family.3 They described KERA as encoding 10 conserved leucine-rich regions (LRRs) and stated that previously reported KERA mutations associated with autosomal recessive cornea plana affect 1 of these LRRs.
Ebenezer and colleagues did not reference the nonsense KERA mutation (CGA313 TGA) reported in an affected Saudi Arabian family in June 2004,4 and they misstated the number of LRRs that KERA contains. This Saudi mutation is predicted to cause premature protein truncation in exon 3, an exon responsible for coding 2 LRRs not recognized by Ebenezer and colleagues. Human KERA was originally described as encoding 11 LRRs10 in exon 2 and 1 in exon 3.5 Thereafter, the number of LRRs coded by . . . [Full Text of this Article] AUTHOR INFORMATION
Arif O. Khan, MD
CiteULike Connotea Delicious Digg Facebook Reddit Technorati Twitter
What's this?
RELATED LETTER
Further Information Regarding KERA and Recessive Cornea PlanaReply
Neil D. Ebenezer and Richard C. Allen
Arch Ophthalmol. 2006;124(9):1372.
EXTRACT
| FULL TEXT
RELATED ARTICLE
Clinical and Molecular Characterization of a Family With Autosomal Recessive Cornea Plana
Neil D. Ebenezer, Chetankumar B. Patel, Seenu M. Hariprasad, Li L. Chen, Reshma J. Patel, Alison J. Hardcastle, and Richard C. Allen
Arch Ophthalmol. 2005;123(9):1248-1253.
ABSTRACT
| FULL TEXT
|