A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene-Reference-Cited by-同舟云学术

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A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene

Published:1998-11 Issue:5 Volume:63 Page:1307-1315
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Sohocki Melanie M.,Sullivan Lori S.,Mintz-Hittner Helen A.,Birch David,Heckenlively John R.,Freund Carol L.,McInnes Roderick R.,Daiger Stephen P.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Crx, a novel otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes;Chen;Neuron,1997

2. Data services and software for identifying genes and mutations causing retinal degeneration;Daiger;Invest Ophthalmol Vis Sci Suppl,1998

3. From fly head to mammalian forebrain: the story of otd and OTX;Finkelstein;Trends Genet,1994

4. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor;Freund;Cell,1997

5. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis;Freund;Nat Genet,1998

Cited by 225 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. Molecular basis of CRX/DNA recognition and stoichiometry at the Ret4 response element;Structure;2024-07

2. Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences;International Journal of Molecular Sciences;2024-06-03

3. Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients;Medicina;2024-05-11

4. Mutational scanning ofCRXclassifies clinical variants and reveals biochemical properties of the transcriptional effector domain;2024-03-27

5. Transcriptional precision in photoreceptor development and diseases – Lessons from 25 years of CRX research;Frontiers in Cellular Neuroscience;2024-02-13

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