Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome-Reference-Cited by-同舟云学术

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Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome

Published:2017-05 Issue:5 Volume:60 Page:239-244
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Cherkaoui Jaouad Imane,Lyahyai Jaber,Guaoua Soukaina,El Alloussi Mustapha,Zrhidri Abdelali,Doubaj Yassamine,Boulanouar Abdelkrim,Sefiani Abdelaziz

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference29 articles.

1. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes;Abu-Safieh;Genome Res.,2013

2. Precipitation of calcium carbonates and phosphates. 3. The effect of magnesium and fluoride ions on the spontaneous precipitation of calcium carbonates and phosphates;Bachra;Arch. Oral Biol.,1965

3. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa;Bowne;Hum. Mol. Genet.,2002

4. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Cartegni;Nat. Rev. Genet.,2002

5. Identity-by descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy;Coppieters;Genet. Med.,2014

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome;Molecular Genetics & Genomic Medicine;2022-02-12

2. Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4;International Journal of Molecular Sciences;2019-12-12

3. A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations;Molecular Genetics & Genomic Medicine;2019-07-25

4. Current Structural Knowledge on the CNNM Family of Magnesium Transport Mediators;International Journal of Molecular Sciences;2019-03-06

5. Features, genetics and their correlation in Jalili syndrome: a systematic review;Journal of Medical Genetics;2019-01-31

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