Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.
about
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosaEpigenomic landscapes of retinal rods and conesMolecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC)Downregulation of a unique photoreceptor protein correlates with improper outer segment assembly.Blocking transcription of the human rhodopsin gene by triplex-mediated DNA photocrosslinkingLinkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.Retinal degeneration in two lines of transgenic S334ter ratsChemical kinetic analysis of thermal decay of rhodopsin reveals unusual energetics of thermal isomerization and hydrolysis of Schiff baseDefective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesThe role of Rds in outer segment morphogenesis and human retinal disease.Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.A perspective on the role of the extracellular matrix in progressive retinal degenerative disorders.High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies.
P2860
Q24676387-545856E2-571B-45ED-A588-56B506FE734FQ28550899-465A5080-A7AA-49A6-823B-7A9218013ADAQ28610016-322FAC9E-1303-42FD-8414-317F92A25B96Q32060917-C2C9BB6A-A8CA-4800-83E8-CAC8F4BCB04CQ33825913-575235FC-2CE2-4364-B558-1E08F9F2953EQ34384129-A460F5D8-184E-497E-9A94-7355D4995E6FQ34777839-BCF2E9FC-D26E-4CCB-9958-7527E965856CQ35515596-4096D30D-17AF-419C-A061-F3B60A9BD84AQ35926100-4E07613B-6AFD-43B7-99BD-D842B3EDBECDQ36246480-6B687800-C052-4160-BC65-17E7BFA96E1AQ36674594-25FB009C-92F6-403B-86DF-1A37559B76F0Q36677005-DD2B474B-525B-493C-BFA4-CE848FC8C0BEQ36929089-A28C29A7-ED84-4997-95BB-FD8C07D943ECQ38171998-0A58D843-35A1-4CAC-B12C-3B1EFEF981EAQ42633629-89941E5F-8A1E-43C6-89EB-61E9D1D09C4FQ43671148-BFAA4116-73AE-4D39-BB34-C796F529A576
P2860
Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Retinitis pigmentosa and relat ...... and peripherin/RDS mutations.
@en
type
label
Retinitis pigmentosa and relat ...... and peripherin/RDS mutations.
@en
prefLabel
Retinitis pigmentosa and relat ...... and peripherin/RDS mutations.
@en
P2860
P356
P1476
Retinitis pigmentosa and relat ...... and peripherin/RDS mutations.
@en
P2093
Shastry BS
P2860
P304
P356
10.1002/AJMG.1320520413
P577
1994-10-01T00:00:00Z