High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma-Reference-Cited by-同舟云学术

High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma

Published:2019-12-09 Issue:3 Volume:41 Page:678-695
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kalaskar Vijay K.¹^ORCID,Alur Ramakrishna P.¹,Li LeeAnn K.¹^ORCID,Thomas James W.²,Sergeev Yuri V.³^ORCID,Blain Delphine⁴^ORCID,Hufnagel Robert B.⁵^ORCID,Cogliati Tiziana¹,Brooks Brian P.¹⁴^ORCID

Affiliation:

1. Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI)National Institutes of Health (NIH)Bethesda Maryland

2. National Institutes of Health Intramural Sequencing CenterNational Human Genome Research Institute, NIHBethesda Maryland

3. Protein Biochemistry and Molecular Modeling Group, OGVFB, NEINIHBethesda Maryland

4. Ophthalmic Clinical Genetics Section, OGVFB, NEINIHBethesda Maryland

5. Medical Genetics and Ophthalmic Genomics Unit, OGVFB, NEINIHBethesda Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23954

Reference120 articles.

1. A method and server for predicting damaging missense mutations

2. An update on the genetics of ocular coloboma

3. Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

4. Structure, function and modulation of retinoic acid receptor beta, a tumor suppressor

5. Hedgehog signaling in vertebrate eye development: a growing puzzle

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