Author(s): Bonyadi M, Omrani O, Rafeey M, Bilan N
Aims: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In the present study, for the first time, we determined the spectrum of CFTR gene mutations in 100 patients with CF originated from the Iranian Azeri Turkish ethnic group.
Results: Here, we report identification of 17 previously known and one novel mutation, namely K1302X, in this cohort. The frequency of deltaF508 mutation was found to be 23%.
Conclusions: Low frequency of deltaF508 mutation and detection of one novel and 16 known mutations reflect a heterogeneous spectrum of the mutations in this ethnic group.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/21198395
Author(s): Karimi M, Giti R, Haghpanah S, Azarkeivan A, Hoofar H, et al.
Author(s): Divoky V, Mrug M, Thornley-Brown D, Divoka M, Prchal JT
Author(s): Joulaei H, Shahbazi M, Nazemzadegan B, Rastgar M, Hadibarhaghtalab M, et al.
Author(s): Najmabadi H, Ghamari A, Sahebjam F, Kariminejad R, Hadavi V, et al.
Author(s): Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, et al.
Author(s): Hadavi V, Taromchi AH, Malekpour M, Gholami B, Law HY, et al.
Author(s): Samavat A, Modell B
Author(s): Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, et al.
Author(s): Boudrahem-Addour N, Zidani N, Carion N, Labie D, Belhani M, et al.
Author(s): Thein SL
Author(s): Kazazian HH Jr, Antonarakis SE, Cheng T, Boehm CD, Waber PG
Author(s): Kazazian HH Jr, Orkin SH, Markham AF, Chapman CR, Youssoufian H, et al.
Author(s): Patrinos GP, Kollia P, Papadakis MN
Author(s): Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M, et al.
Author(s): Old J, Henderson S
Author(s): Arab A, Karimipoor M, Rajabi A, Hamid M, Arjmandi S, et al.
Author(s): Botstein D, White RL, Skolnick M, Davis RW
Author(s): Thein SL
Author(s): Najmabadi H, Karimi-Nejad R, Sahebjam S, Pourfarzad F, Teimourian S, et al.
Author(s): Zahed L
Author(s): Rahimi Z, Muniz A, Akramipour R, Tofieghzadeh F, Mozafari H, et al.
Author(s): Antonarakis SE, Kazazian HH Jr, Orkin SH
Author(s): Hockham C, Piel FB, Gupta S, Penman BS
Author(s): El-Latif MA, Filon D, Rund D, Oppenheim A, Kanaan M
Author(s): Makhoul NJ, Wells RS, Kaspar H, Shbaklo H, Taher A, et al.
Author(s): Orkin SH, Goff SC
Author(s): Agouti I, Badens C, Abouyoub A, Khattab M, Sayah F, et al.
Author(s): Martins JT, Bordin S, de Albuquerque DM, Saad ST, Costa FF
Author(s): Falchi A, Giovannoni L, Vacca L, Latini V, Vona G, et al.
Author(s): Knott M, Ramadan KM, Savage G, Jones FG, El-Agnaf M, et al.
Author(s): Rahimi Z, Muniz A, Mozafari H
Author(s): Morales KR, Magaña MT, Ibarra B, Perea FJ