Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue - Test2 - elhamkhani - TriplyDB

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

http://www.wikidata.org/entity/Q55214628

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Defective EXT1 causes exostoses 1, TRPS2 and CHDS

P527

Q45316523-B4B6A92D-7AE6-4CCF-80F2-35E27F35169B

P527

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

http://www.wikidata.org/entity/Q55214628

description

An instance of the biological ...... l GlcA residue in Homo sapiens

@en

biologisch proces

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name

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

@en

type

label

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

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prefLabel

Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue

@en

P2860

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Q55214628-63DC4666-3433-4B5C-AB32-2F3CF2BFFCB2

Q55214628-703317E4-49CD-4BAC-B315-D1D414447E9B

Q55214628-7D79EA77-5796-4665-874F-1023A7681FFE

Q55214628-8BB82761-AA13-47E9-A40B-8AF47BDE09D1

Q55214628-B62A9131-E48F-4A98-940D-3EF8B49C359E

P2888

Q55214628-6080558D-16E3-4F6B-B46C-CFAB584E234B

P31

Q55214628-0A7B08AD-687A-4488-AEE5-3F525DAAE440

P361

Q55214628-69386612-9921-4264-B039-5BAB78BF3D45

P3937

Q55214628-49C42DDD-4AC8-47CA-9F07-BC18D20F02AA

P527

Q55214628-1A329004-CB23-4B26-9844-99C4FEBB57A2

Q55214628-C09CD9FE-7C0F-4849-84AF-E8BB8586798B

P703

Q55214628-19047375-2B36-4493-88C1-4FD5E9DC270B

P2860

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies

Mutation analysis of hereditary multiple exostoses in the Chinese

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

P2888

reactome:R-HSA-9036283

P31

biological process

P361

Defective EXT1 causes exostoses 1, TRPS2 and CHDS

P3937

R-HSA-9036283

http://www.w3.org/2001/XMLSchema#string

P527

UDP N-acetyl-alpha-D-glucosamine

GlcA-Gal-Gal-Xyl-HS proteins

P703