Batten disease cln3

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Batten disease cln3 stanley tool organizer xl CLN10 disease This very rare disease is caused by a mutation in the CTSD gene, located on chromosome 11, which produces a protein known as cathepsin D.

10 bar compressor angle grinder table LEROI COMPRESSOR 38 gallon lowboy electric water heater CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time. In children with CLN3 disease, problems with vision often begin between the ages of 4 and 8 years.  CLN3 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. "A model for Batten disease protein CLN3: functional implications from homology and mutations". FEBS Letters. (1–2): 75–7. doi/S(96)  "Molecular screening of Batten disease: identification of a missense mutation (EK) in the CLN3 gene". Human Genetics. (1): 57– doi/s Болезнь Баттена — редкое смертельное нейродегенеративное рецессивно наследуемое заболевание, начинающееся в детстве.

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