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Journal of Kerman University of Medical Sciences، جلد ۱۱، شماره ۳، صفحات ۱۳۶-۱۴۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population |
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| چکیده انگلیسی مقاله |
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf population. For this purpose, 130 chromosomes from 65 patients were studied and 35delG mutation was diagnosed in 3(2.3%) chromosomes (one patient was homozygote and the other one was heterozygote). This rate of frequency is significantly higher comparing to that in the whole population of Iran. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
n بزاززادگان |
master of science in cell and molecular biology
n میرحسینی |
pediatrician
h ضیاالدینی |
general practicioner
ar اسدی |
phd in medical physics and rehabilitation
k کهریزی |
pediatrician
s ارژنگی |
bachelor of science in nursing
a آستانی |
master of science in virology, genetics department, kerman social welfare and rehabilitation organization, kerman iran
m محسنی |
master of science in cell and molecular biology
y ریاض الحسینی |
master of science in cell and molecular biology
m نجات |
master of science in genetics
kh جلالوند |
bachelor of science in nursing
rjh اسمیت |
audiologist, head of otolaryngology research center
c nishimura |
head of gentics department, otolaryngology research center, university of iowa city, ia, usa.
h نجم آبادی |
associate professor of genetics, genetics research center, the university of social welfare and rehabilitation, tehran, iran.
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| نشانی اینترنتی |
http://jkmu.kmu.ac.ir/article_32762_50837385184f043fc057a0efcda79b20.pdf |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/93/article-93-405299.pdf |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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