Pages that link to "Q34188178"
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The following pages link to Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. (Q34188178):
Displaying 19 items.
- Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology (Q24297627) (← links)
- CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein (Q24299818) (← links)
- Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A (Q24315800) (← links)
- Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 (Q24626677) (← links)
- A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease (Q27303003) (← links)
- Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (Q34207198) (← links)
- The genetic spectrum of human neuronal ceroid-lipofuscinoses (Q34302797) (← links)
- Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses (Q34427575) (← links)
- Current state of clinical and morphological features in human NCL. (Q35681059) (← links)
- The intracellular location and function of proteins of neuronal ceroid lipofuscinoses (Q35681065) (← links)
- Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner (Q37171634) (← links)
- The function of CLN3P, the Batten disease protein (Q37238448) (← links)
- Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses (Q37944570) (← links)
- Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. (Q40519012) (← links)
- A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report (Q57052791) (← links)
- Two cases of variant late infantile ceroid lipofuscinosis in Jordan (Q61443537) (← links)
- Tracking sex-dependent differences in a mouse model of CLN6-Batten disease (Q61446057) (← links)
- Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients (Q63979764) (← links)
- The neuronal ceroid-lipofuscinoses (Q86999536) (← links)