Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma.

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. This study proposed to screen candidate PACG-associated variants in Chinese Han people. Whole exome sequencing was applied to five confirmed PACG patients and two primary angle closure suspect individuals within a PACG-enriched Chinese Han family.

A series of bioinformatics analyses were implemented to obtain high-risk single nucleotide variant (SNV) loci for PACG, which were subsequently used for linkage analysis for identifying linkage genome regions.

In addition, MassARRAY SNV genotyping was applied to high-risk PACG loci as well as those within linkage regions in another independent cohort including 251 PACG and 251 normal samples to further screen high-confidence SNVs. A total of 27 loci in 19 genes remained after linkage analysis. The 19 genes were significantly enriched in biological processes tightly related to PACG, including retinol metabolism and salmonella infection.

Rat Cytochrome-C (Cyt-c) protein WB +ve control

CYTC11-C 100 ul
EUR 286

Recombinant Borrelia burgdorferi Osp-C protein (OSP-C) control for Western blot

OSPC12-C 100 ul
EUR 286

FD Rapid GolgiStain™ kit - Solution C

PK401-C 250 ml
EUR 196

Canine C-Peptide ELISA Kit

DLR-C-Peptide-c-48T 48T
EUR 527
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Canine C-Peptide ELISA Kit

DLR-C-Peptide-c-96T 96T
EUR 688
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Canine C-Peptide ELISA Kit

RD-C-Peptide-c-48Tests 48 Tests
EUR 533

Canine C-Peptide ELISA Kit

RD-C-Peptide-c-96Tests 96 Tests
EUR 740

Canine C-Peptide ELISA Kit

RDR-C-Peptide-c-48Tests 48 Tests
EUR 557

Canine C-Peptide ELISA Kit

RDR-C-Peptide-c-96Tests 96 Tests
EUR 774

Human Apolipoprotein C-I protein control for WB

APOC11-C 100 ul
EUR 286

Human Apolipoprotein C-II protein control for WB

APOC22-C 100 ul
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APOC32-C 100 ul
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Purified Human C-Reactive Protein (CRP) control for WB

CRP12-C 100 ul
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CRP16-C 100 ul
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CRP18-C 100 ul
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Recombinant (E.coli) C. perfringens alpha toxin protein control for western blot

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Recombinant purified Circumsporozoite (CSP, P.falciparum) C-terminal (207-397 aa) His-tag protein control for Western Blot

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c-Myc Oncoprotein; Clone 9E10.3 (Concentrate)

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Multi Fusion-Tagged recombinant Protein 52-Kda containing 16-tags (T-7, HSV, C-myc, VSV-G, Glu-Glu, V5, e-tag, Flag, S-tag, HA, KT3, E2, Au1, Au5, 6xHis-tags) for ELISA/Western

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RA0135-C.1 0.1 ml
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Rat C-Peptide ELISA Kit

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Human C-Peptide ELISA Kit

RD-C-Peptide-Hu-48Tests 48 Tests
EUR 387

Human C-Peptide ELISA Kit

RD-C-Peptide-Hu-96Tests 96 Tests
EUR 532

Mouse C-Peptide ELISA Kit

RD-C-Peptide-Mu-48Tests 48 Tests
EUR 446

Mouse C-Peptide ELISA Kit

RD-C-Peptide-Mu-96Tests 96 Tests
EUR 615

Rat C-Peptide ELISA Kit

RD-C-Peptide-Ra-48Tests 48 Tests
EUR 465

Rat C-Peptide ELISA Kit

RD-C-Peptide-Ra-96Tests 96 Tests
EUR 643

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EUR 404

Human C-Peptide ELISA Kit

RDR-C-Peptide-Hu-96Tests 96 Tests
EUR 556

Mouse C-Peptide ELISA Kit

RDR-C-Peptide-Mu-48Tests 48 Tests
EUR 465

Mouse C-Peptide ELISA Kit

RDR-C-Peptide-Mu-96Tests 96 Tests
EUR 643

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EUR 486

Rat C-Peptide ELISA Kit

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DIRECTPCR LYSIS REAGENT (CELL)

301-C 50 ml
EUR 141
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DIRECTPCR LYSIS REAGENT (CELL)

302-C 100 ml
EUR 207
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80-Well Rack, Natural Cover Only

R567-C 1 UNIT
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7060-C 1 ml
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Two nonsynonymous SNV loci, rs897804 in exon15 of HOOK2 and rs3745193 in exon7 of GTPBP3, were recognized with higher variant frequency in PACG samples than that in control samples after association analysis of MassARRAY SNV genotyping data. This study sheds new light on the understanding of PACG incidence among Chinese Han people.