|
|
Iranian Journal of Kidney Diseases، جلد ۹، شماره ۱، صفحات ۶۳-۰
|
|
|
| عنوان فارسی |
|
|
| چکیده فارسی مقاله |
|
|
| کلیدواژه‌های فارسی مقاله |
|
|
| عنوان انگلیسی |
Cystinuria in a Patient With a Novel Mutation in SLC7A9 Gene |
|
| چکیده انگلیسی مقاله |
Cystinuria, one of the first inborn errors of metabolism, is characterized by hyperexcretion of cystine, arginine, lysine, and ornithine into urine. Cystinuria is genetically classified into types A and B. Mutations in the SLC3A1 gene lead to type A, and type B is caused by mutations in the SLC7A9 gene. We described a 19-year-old woman that had early onset of cystine calculus formation at the age of 3 years. After DNA extraction and polymerase chain reaction, direct sequencing was performed. By these methods, a novel nucleotide substitution c.177G>A in exon 3 of the SLC7A9 gene was found, which had not been reported elsewhere previously. This nucleotide substitution occurs in the extracellular domain of the SLC7A9 gene. In addition, a previously described intron variant c.1136+2/3delT (intron 6 of SLC3A1 ) in homozygosity status was detected in the patient. To our knowledge, this is the first report of novel nucleotide substitution c.177G>A in exon 3 of the SLC7A9 gene. |
|
| کلیدواژه‌های انگلیسی مقاله |
|
|
| نویسندگان مقاله |
لیلا کولیوند | leila koulivand
مهرداد محمدی | mehrdad mohammadi
بهروز عزت پور | behrouz ezatpour
مجید خیرالهی | majid kheirollahi
|
|
| نشانی اینترنتی |
http://www.ijkd.org/index.php/ijkd/article/view/1622 |
| فایل مقاله |
فایلی برای مقاله ذخیره نشده است |
| کد مقاله (doi) |
|
| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
|
| نوع مقاله منتشر شده |
CASE REPORT | Kidney Diseases |
|
|
|
برگشت به:
صفحه اول پایگاه |
نسخه مرتبط |
نشریه مرتبط |
فهرست نشریات
|