国产乱伦一区二区三区_日韩欧美视频在线一区二区_肉片无遮挡在线观看视频_日韩中文字幕免费播放_美女高潮潮喷出白浆视频_精品黑人AV免费观看_香蕉要视频 AB片_国产自产21区丝袜_日韩无码中文字幕的_午夜黄色视频毛片

佳學(xué)基因遺傳病基因檢測(cè)機(jī)構(gòu)排名,三甲醫(yī)院的選擇

基因檢測(cè)就找佳學(xué)基因!

熱門搜索
  • 癲癇
  • 精神分裂癥
  • 魚鱗病
  • 白癜風(fēng)
  • 唇腭裂
  • 多指并指
  • 特發(fā)性震顫
  • 白化病
  • 色素失禁癥
  • 狐臭
  • 斜視
  • 視網(wǎng)膜色素變性
  • 脊髓小腦萎縮
  • 軟骨發(fā)育不全
  • 血友病

客服電話

4001601189

在線咨詢

CONSULTATION

一鍵分享

CLICK SHARING

返回頂部

BACK TO TOP

分享基因科技,實(shí)現(xiàn)人人健康!
×
查病因,阻遺傳,哪里干?佳學(xué)基因準(zhǔn)確有效服務(wù)好! 靶向用藥怎么搞,佳學(xué)基因測(cè)基因,優(yōu)化療效 風(fēng)險(xiǎn)基因哪里測(cè),佳學(xué)基因
當(dāng)前位置:????致電4001601189! > 檢測(cè)產(chǎn)品 > 遺傳病 > 眼科 >

【佳學(xué)基因檢測(cè)】基因檢測(cè)確定DHX38基因突變導(dǎo)致視網(wǎng)膜色素變性并明確是否遺傳

根據(jù)眼底檢查異常的基因檢測(cè)如何阻斷遺傳,國際有很高知名度基因檢測(cè)科學(xué)性證據(jù)雜志《.?2022 Apr 30;28(4):260-262.》在第Middle East Afr J Ophthalmol期發(fā)表了一篇標(biāo)題為《A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa》的基因檢測(cè)中的錯(cuò)義突變臨床分析文章。該基因領(lǐng)域的臨床應(yīng)用研究由Saud Al-Johani,?Abdulelah Alabdullah,?Sawsan R Nowilaty?完成。

佳學(xué)基因檢測(cè)】A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa


眼底檢查異常的基因檢測(cè)如何阻斷遺傳

根據(jù)眼底檢查異常的基因檢測(cè)如何阻斷遺傳,國際有很高知名度基因檢測(cè)科學(xué)性證據(jù)雜志《.?2022 Apr 30;28(4):260-262.》在第Middle East Afr J Ophthalmol期發(fā)表了一篇標(biāo)題為《A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa》的基因檢測(cè)中的錯(cuò)義突變臨床分析文章。該基因領(lǐng)域的臨床應(yīng)用研究由Saud Al-Johani,?Abdulelah Alabdullah,?Sawsan R Nowilaty?完成。


基因信息數(shù)據(jù)庫索引號(hào):

和.?2022 Apr 30;28(4):260-262.

基因解碼研究關(guān)鍵詞:

?DHX38; Gene mutation; renitis pigmentosa.


國際基因解碼證據(jù)鏈條標(biāo)簽:


基因檢測(cè)臨床研究與應(yīng)用結(jié)果介紹:

We present two cases of a novel missense variant mutation in the?DHX38?gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both eyes for the two sisters. Fundus examination revealed widespread retinal pigmentary changes, linear peripheral hyperpigmentation clumps, bone spicules, and bilateral optic nerve drusen with bilateral macular hyperpigmentation. Spectral-domain optical coherence tomography scans reveal losses of the outer retinal layer and the presence of subretinal fibrosis and thinning of the choroid. Molecular sequencing analysis of the?DHX38?exome identified a novel missense mutation of the homozygous variant c. 2571 (p. Ala857=), which co-segregates with the autosomal recessive RP gene that encodes the premRNA splicing factor, PRP16. The aim of this report is to describe the clinical feature associated with this variant and to provide additional evidence that?DHX38?is involved in RP. To the best of our knowledge, this variant has not been described in the literature.


眼底復(fù)雜病變的單一原因分析


 /uploads/zhibinjiyin/脆性X染色體綜合征-致病基因鑒定.jpg

 
(責(zé)任編輯:佳學(xué)基因)
頂一下
(0)
0%
踩一下
(0)
0%
推薦內(nèi)容:
來了,就說兩句!
請(qǐng)自覺遵守互聯(lián)網(wǎng)相關(guān)的政策法規(guī),嚴(yán)禁發(fā)布色情、暴力、反動(dòng)的言論。
評(píng)價(jià):
表情:
用戶名: 驗(yàn)證碼: 點(diǎn)擊我更換圖片

Copyright © 2013-2033 網(wǎng)站由佳學(xué)基因醫(yī)學(xué)技術(shù)(北京)有限公司,湖北佳學(xué)基因醫(yī)學(xué)檢驗(yàn)實(shí)驗(yàn)室有限公司所有 京ICP備16057506號(hào)-1;鄂ICP備2021017120號(hào)-1

設(shè)計(jì)制作 基因解碼基因檢測(cè)信息技術(shù)部