Article
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
The Journal of molecular diagnostics : JMD - 1 Jul 2007
Chitsazian Fereshteh, Tusi Betsabeh Khoramian, Elahi Elahe, Saroei Heidar Amini, Sanati Mohammad H, Yazdani Shahin, Pakravan Mohammad, Nilforooshan Navid, Eslami Yadollah, Mehrjerdi Mohammad Ali Zare, Zareei Reza, Jabbarvand Mahmood, Abdolahi Ali, Lasheyee Ali R, Etemadi Arash, Bayat Behnaz, Sadeghi Mehdi, Banoei Mohammad M, Ghafarzadeh Behnam, Rohani Mohammad R, Rismanchian Akram, Thorstenson Yvonne, Sarfarazi Mansoor
Abstract excerpt
The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary...
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