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Published on Jul 17, 2021
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An 11-year-old boy with a history of short stature develops progressive neuropathy, diarrhea, and fatty stools. His past medical history is unremarkable, and he is up to date with vaccinations. On examination, his deep tendon reflexes are decreased. Proprioception and vibratory sensation are impaired, and he has ataxia with a spastic gait. On fundoscopy, there is pigmentary retinal degeneration, and the patient has decreased night vision. The lipid profile is markedly abnormal, with cholesterol 0.6 mmol/dL (3.5-5), low-density lipoprotein (LDL) 0 mg/dL (85-125) and high-density lipoprotein (HDL) 28 mg/dL (40-80). Given the likely diagnosis and gene mutation involved, where is the effected receptor situated?

1.The apical plasma membrane of the enterocytes
2.The nucleus of the enterocytes
3.The luminal plasma membrane of the enterocytes
4.The endoplasmic reticulum of the enterocytes

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