Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

Abdelkader Ehab; AlHilali Sara; Neuhaus Christine; Bergmann Carsten; AlMurshed Tahani; Schatz Patrik

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Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

机译：先天性固定夜盲与早晨荣耀圆盘畸形：CaCna1f中的新型嗜血突变

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来源
《Ophthalmic genetics》 |2018年第5期|共3页
作者
Abdelkader Ehab; AlHilali Sara; Neuhaus Christine; Bergmann Carsten; AlMurshed Tahani; Schatz Patrik;
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作者单位

King Khalid Eye Specialist Hosp Vitreoretinal Div Riyadh 11462 Saudi Arabia;

King Khalid Eye Specialist Hosp Vitreoretinal Div Riyadh 11462 Saudi Arabia;

Bioscentia Ctr Human Genet Ingelheim Germany;

Bioscentia Ctr Human Genet Ingelheim Germany;

King Khalid Eye Specialist Hosp Vitreoretinal Div Riyadh 11462 Saudi Arabia;

King Khalid Eye Specialist Hosp Vitreoretinal Div Riyadh 11462 Saudi Arabia;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
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入库时间 2022-08-20 05:21:01

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专利

1. Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F [J] . Abdelkader Ehab, AlHilali Sara, Neuhaus Christine, Ophthalmic genetics . 2018,第5期

机译：先天性固定夜盲与早晨荣耀圆盘畸形：CaCna1f中的新型嗜血突变
2. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. [J] . Peloquin JB, Rehak R, Doering CJ, Neuroscience: An International Journal under the Editorial Direction of IBRO . 2008,第2期

机译：先天性固定夜盲型-2CACNA1F突变的功能分析F742C，G1007R和R1049W。
3. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. [J] . Peloquin JB, Rehak R, Doering CJ, Neuroscience: An International Journal under the Editorial Direction of IBRO . 2008,第2期

机译：先天性固定夜盲型-2CACNA1F突变的功能分析F742C，G1007R和R1049W。
4. GEOMETRY INFLUENCE AND DISCHARGE RATING CURVE CORRECTION IN MORNING GLORY SPILLWAYS [C] . FAIS LAURA M.C.F, DALFRE FILHO JOSE G., GENOVEZ A.I.B IAHR World Congress . 2016

机译：牵牛理溢洪道的几何影响和排放评级曲线校正
5. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family [O] . Ajoy Vincent, Tom Wright, Megan A. Day, 2011

机译：CACNA1F中一个新的p.Gly603Arg突变导致Åland岛眼病和一个家庭中不完全的先天性固定性夜盲表型
6. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. [O] . Zeitz C., Minotti R., Feil S., 2005

机译：X连锁先天性固定性夜盲的荷兰家庭中CACNA1F和NYX的新型突变。

Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

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