【Identification of Novel Nonsense RPGR Variant Causing Mild X-Linked Cone-Rod Dystrophy and Myopia】
#论文# #眼科学# #近视# #视网膜退化# #基因#
X-linked cone-rod dystrophy (XLCRD) is a rare progressive retinal degeneration. Moderate or high myopia is often secondary to XLCRD phenotype both on patients and carrier. RPGR gene is responsible for XLCRD (OMIM #304020) and atrophic macular degeneration (OMIM #300834). This paper describes a male patient with clinical suspicion of CRD in whom clinical exome sequencing (CES) found a novel nonsense mutation in the exon ORF15 (c.1905 + 223C > T, p.Q710X) of RPGR gene.
DOI: 10.4236/crcm.2022.1110059 https://t.cn/A6oVIMAp
#论文# #眼科学# #近视# #视网膜退化# #基因#
X-linked cone-rod dystrophy (XLCRD) is a rare progressive retinal degeneration. Moderate or high myopia is often secondary to XLCRD phenotype both on patients and carrier. RPGR gene is responsible for XLCRD (OMIM #304020) and atrophic macular degeneration (OMIM #300834). This paper describes a male patient with clinical suspicion of CRD in whom clinical exome sequencing (CES) found a novel nonsense mutation in the exon ORF15 (c.1905 + 223C > T, p.Q710X) of RPGR gene.
DOI: 10.4236/crcm.2022.1110059 https://t.cn/A6oVIMAp
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念圣诗
对每一个人都有好处。不论是什么宗教信仰都没有冲突,对改善好的磁场,增强好的运势有积极作用。读英文版效果更好。
愿善良的人能够为点点祈祷。只要读完圣诗以后读”Disciple wishes to dedicate this merits give to Dotdot.”(弟子愿回向此功德给点点)。那样点点收到你们的祈祷的了。谢谢好心人。^ ^
Silent Night , Holy Night
All Is Calm , All Is Bright
Round Yon Virgin Mother And Child
Holy Infant So Tender And Mild
Sleep In Heavenly Peace
Sleep In Heavenly Peace
Silent Night , Holy Night
Shepherd Pray At The Sight ,
Glory Streams From Heaven Afar
Heavenly Sing Hallelujah
Christ The Savior Is Born
Christ The Savior Is Born
Silent Night , Holy Night !
Son Of God Love’s Pure Light.
Radiant Beams From Thy Holy Face
With Dawn Of Redeeming Grace
Jesus Lord , At Thy Birth
Jesus Lord , At Thy Birth
———————————————————
念圣诗
对每一个人都有好处。不论是什么宗教信仰都没有冲突,对改善好的磁场,增强好的运势有积极作用。读英文版效果更好。
愿善良的人能够为点点祈祷。只要读完圣诗以后读”Disciple wishes to dedicate this merits give to Dotdot.”(弟子愿回向此功德给点点)。那样点点收到你们的祈祷的了。谢谢好心人。^ ^
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BNK48 1st generation 22人
[Concert Graduation 12 月]
成员正式宣布毕业:6人 [Music•Mobile•Kaimook•Jennis•jib•korn]
与公司续签短期合同的会员:3人 [Cherprang•Satchan•Miori]
未与公司续约的会员(尚未正式宣布毕业)
: 6 人[Jane•kaew•Namsai•orn•Piam•Pun]
仍在考虑中的成员:7人 [Jaa•kate•Mild•
Namnueng•Noey•Pupe•Tarwarn]
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