Genotype-phenotype correlation in hereditary multiple exostoses (Q24672770)

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scientific article

Language	Label	Description	Also known as
English	Genotype-phenotype correlation in hereditary multiple exostoses	scientific article

Statements

instance of

scholarly article

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title

Genotype-phenotype correlation in hereditary multiple exostoses (English)

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author name string

C Francannet

series ordinal

1

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A Cohen-Tanugi

series ordinal

2

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M Le Merrer

series ordinal

3

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A Munnich

series ordinal

4

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J Bonaventure

series ordinal

5

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L Legeai-Mallet

series ordinal

6

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original language of film or TV show

English

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publication date

July 2001

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published in

Journal of Medical Genetics

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volume

38

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issue

7

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page(s)

430-4

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cites work

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

1 reference

stated in

PubMed Central

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

1 reference

stated in

PubMed Central

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

1 reference

stated in

PubMed Central

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

1 reference

stated in

PubMed Central

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

1 reference

stated in

PubMed Central

Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family

1 reference

stated in

PubMed Central

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

1 reference

stated in

PubMed Central

Genetic heterogeneity in families with hereditary multiple exostoses

1 reference

stated in

PubMed Central

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

1 reference

stated in

PubMed Central

Mutation and cancer: statistical study of retinoblastoma

1 reference

stated in

PubMed Central

Identifiers

DOI

10.1136/jmg.38.7.430

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OpenCitations bibliographic resource ID

328399

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stated in

OpenCitations Corpus

PMC publication ID

1757186

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PubMed publication ID

11432960

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