Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients-Reference-Cited by-同舟云学术

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Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

Published:1996-05-30 Issue:1 Volume:98 Page:51-54
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Ayuso C.,Trujillo María José,Robledo Mercedes,Ramos Carmen,Benitez Javier,Martín-Osés Félix,del Rio Teresa,García-Sandoval Blanca

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050158.pdf

Cited by 22 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. Spectrum-frequency and genotype–phenotype analysis of rhodopsin variants;Experimental Eye Research;2021-02

2. Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease;Genetics;2018-12-04

3. Misfolded rhodopsin mutants display variable aggregation properties;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2018-09

4. Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations;Translational Vision Science & Technology;2017-05-10

5. Genetic modifiers as relevant biological variables of eye disorders;Human Molecular Genetics;2017-05-08

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