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Questions and Answers
What is the cause of Mucolipidosis type IV?
What is the cause of Mucolipidosis type IV?
- Mutations in the MCOLN4 gene
- Mutations in the MCOLN3 gene
- Mutations in the MCOLN2 gene
- Mutations in the MCOLN1 gene (correct)
What is a common symptom of Mucolipidosis type IV?
What is a common symptom of Mucolipidosis type IV?
- Hepatic encephalopathy
- Corneal opacity (correct)
- Hyperthyroidism
- Pulmonary embolism
What is the result of many of the known mutations in MCOLN1?
What is the result of many of the known mutations in MCOLN1?
- Expression of mutated mucolipin1
- Increased expression of mucolipin1
- No expression of mucolipin1 (correct)
- Normal expression of mucolipin1
What is the physiological role of the protein product of the MCOLN1 gene?
What is the physiological role of the protein product of the MCOLN1 gene?
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What is the carrier frequency of severe mutations in the Ashkenazi Jewish population?
What is the carrier frequency of severe mutations in the Ashkenazi Jewish population?
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What is the effect of achlorhydria in patients with Mucolipidosis type IV?
What is the effect of achlorhydria in patients with Mucolipidosis type IV?
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What is the recommended diagnosis for mucolipidosis type IV?
What is the recommended diagnosis for mucolipidosis type IV?
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Where is mucolipin1 thought to be localized?
Where is mucolipin1 thought to be localized?
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What is the treatment approach for mucolipidosis type IV?
What is the treatment approach for mucolipidosis type IV?
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What is a characteristic feature of affected cells in ML IV?
What is a characteristic feature of affected cells in ML IV?
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