Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

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Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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Identification of presumed pat ...... th Meesmann corneal dystrophy.

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Identification of presumed pat ...... th Meesmann corneal dystrophy.

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Identification of presumed pat ...... th Meesmann corneal dystrophy.

@ast

Identification of presumed pat ...... th Meesmann corneal dystrophy.

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Identification of presumed pat ...... th Meesmann corneal dystrophy.

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Identification of presumed pat ...... th Meesmann corneal dystrophy.

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P1476

Identification of presumed pat ...... th Meesmann corneal dystrophy.

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Anthony J Aldave

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Benjamin R Lin

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Duk-Won D Chung

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Jessica A Gee

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Judy L Chen

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Katherine M Gee

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Ricardo F Frausto

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Sophie X Deng

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P2860

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy

A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

Post-translational modifications of intermediate filament proteins: mechanisms and functions

IC3D classification of corneal dystrophies--edition 2

Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum

P304

1378-1386

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scholarly article

P478

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P577

2015-12-31T00:00:00Z

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26788030

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4704769

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