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Your search keyword '"p.(phe64ser)"' showing total 2 results
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2 results on '"p.(phe64ser)"'

1. A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant

Author

Yan Xian-rang, Hong Ming-fan, Zhou Zhi-hua, Liu Ai-qun, Peng Zhong-xing, Wu Wei-feng, Jing Cheng, Lin Jia-xiu, Long Ying, and Yu Qing-yun

Subjects
amyloid polyneuropathy, familial amyloidosis peripheral disease, transthyretin, neuroelectrophysiology, p.(phe64ser), p.(phe84ser), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser). Only four cases with this variant have been reported before.

Published
2022
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2. A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.

Author

Xian-rang Yan, Ming-fan Hong, Zhi-hua Zhou, Ai-qun Liu, Zhong-xing Peng, Wei-feng Wu, Cheng Jing, Jia-xiu Lin, Ying Long, and Qing-yun Yu

Abstract

We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser). Only four cases with this variant have been reported before. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

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