Niemann-Pick tipo C - Blog Mendelics
Por um escritor misterioso
Descrição
Entenda a doença Niemann-Pick tipo C, suas causas, sintomas e a importância dos testes genéticos para o diagnóstico da condição.
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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family, BMC Neurology
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Molecular dynamics study with mutation shows that N‐terminal domain structural re‐orientation in Niemann‐Pick type C1 is required for proper alignment of cholesterol transport - Yoon - 2021 - Journal of Neurochemistry
Adult onset Niemann-Pick disease type C presenting with psychosis
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