Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.

doi:10.3109/13816810.2011.599356

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Article

Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.

Ophthalmic genetics - 1 Mar 2012

Long Da, Zeng Jun, Wu Ling Qian, Tang Luo Sheng, Wang Hui Ling, Wang Hao

Abstract excerpt

OBJECTIVE: To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation. METHODS: Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and a clinical examination was obtained on the index patient. RESULTS: Vitreous amyloidosis and...

Topics

Adult
Amyloid
Amyloidosis
Asian People
Base Sequence
Eye Diseases
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Pedigree
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Prealbumin
Vitrectomy
Vitreous Body

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PMID: 21843040
DOI: 10.3109/13816810.2011.599356

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