کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4115193 | 1606065 | 2009 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss](/preview/png/4115193.png)
چکیده انگلیسی
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family. Clinical features are due to altered formation of pendrin, a chloride/iodide transporter protein expressed in the inner ear, thyroid gland and kidney. A novel substitution was found in exon 7 of the pendrin encoding gene (SLC26A4) that leads to a stop codon, S314X. The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 73, Issue 10, October 2009, Pages 1458–1463
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 73, Issue 10, October 2009, Pages 1458–1463
نویسندگان
Elona Cama, Maria Stella Alemanno, Emanuele Bellacchio, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Teresa Palladino, Ingrid Inches, Francesco di Paola, Edoardo Arslan, Salvatore Melchionda,