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Study of VSX1 Mutations in Patients with Keratoconus in Southwest Iran Using PCR-Single-Strand Conformation Polymorphism/Heteroduplex Analysis and Sequencing Method

✍ Scribed by Dehkordi, Fatemeh Azadegan; Rashki, Ahmad; Bagheri, Nader; Chaleshtori, Minoo Hashemzadeh; Memarzadeh, Ezzatollah; Salehi, Ali; Ghatreh, Homan; Zandi, Farid; Yazdanpanahi, Nasrin; Tabatabaiefar, Mohammad Amin; Chaleshtori, Morteza Hashemzadeh


Book ID
121264881
Publisher
Acta Cytologica
Year
2013
Tongue
English
Weight
299 KB
Volume
57
Category
Article
ISSN
0001-5547

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Use of the single-strand conformational
✍ Gudnason, V. ;Mak, Y-T. ;Betteridge, J. ;McCarthy, S.N. ;Humphries, S. πŸ“‚ Article πŸ“… 1993 πŸ› Springer-Verlag 🌐 English βš– 962 KB

The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3' half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations