TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
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Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaOverlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
P2860
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P2860
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
description
2014 nî lūn-bûn
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name
TULP1 mutations causing early- ...... but insensitive macular cones.
@ast
TULP1 mutations causing early- ...... but insensitive macular cones.
@en
type
label
TULP1 mutations causing early- ...... but insensitive macular cones.
@ast
TULP1 mutations causing early- ...... but insensitive macular cones.
@en
prefLabel
TULP1 mutations causing early- ...... but insensitive macular cones.
@ast
TULP1 mutations causing early- ...... but insensitive macular cones.
@en
P2093
P2860
P356
P1476
TULP1 mutations causing early- ...... but insensitive macular cones.
@en
P2093
Alejandro J Roman
Alexander Sumaroka
Artur V Cideciyan
Joanna M Dauber
Malgorzata Swider
Rebecca Sheplock
Sharon B Schwartz
Wei Chieh Huang
P2860
P304
P356
10.1167/IOVS.14-14570
P407
P577
2014-07-29T00:00:00Z