Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

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http://www.wikidata.org/entity/Q58865749

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article

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im Mai 2012 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2012

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name

Extracellular matrix and plate ...... by mutations in theCHST14gene

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Extracellular matrix and plate ...... by mutations in theCHST14gene

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type

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Extracellular matrix and plate ...... by mutations in theCHST14gene

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Extracellular matrix and plate ...... by mutations in theCHST14gene

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Extracellular matrix and plate ...... by mutations in theCHST14gene

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Extracellular matrix and plate ...... by mutations in theCHST14gene

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P1476

Extracellular matrix and plate ...... y mutations in the CHST14 gene

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P2093

Aleksander Hinek

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Andrea Superti-Furga

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David Chitayat

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Gen Nishimura

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Laureane Mittaz

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Lucie Dupuis

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Luisa Bonafe

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Ramses Badilla-Porras

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Sheila Unger

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Susan Blaser

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P2860

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family

Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

Molecular cloning and expression of chondroitin 4-sulfotransferase

Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis

Molecular interactions of biglycan and decorin with elastic fiber components: biglycan forms a ternary complex with tropoelastin and microfibril-associated glycoprotein 1

Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

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1344-1354

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scholarly article

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10.1002/AJMG.A.35339

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English

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158A

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Andrew Howard

Roberto Mendoza-Londono

Elaine S Goh

P577

2012-05-11T00:00:00Z

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22581468

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P921

Ehlers-Danlos syndrome