cone dystrophy/arginine

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

3 matokeo

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

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Ingia / Ingia

OBJECTIVE Mutations in the MERTK gene are responsible for retinal degeneration in the Royal College of Surgeons (RCS) rat and are a cause of human autosomal recessive retinitis pigmentosa (RP). This study reports the identification and functional analysis of novel MERTK mutations to provide

Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.

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Ingia / Ingia

OBJECTIVE This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using

Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

The regulation of cGMP levels is central to the normal process of phototransduction in both cone and rod photoreceptor cells. Two of the proteins involved in this process are the enzyme, retinal guanylate cyclase (retGC), and its activating protein (GCAP) through which activity is regulated via

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Herbal & Natural Medicine

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Inafanya kazi katika lugha 55
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Kutambua mimea kwa picha
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Soma machapisho ya kisayansi yanayohusiana na utafutaji wako
Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu

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