(Q73301046)

English

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

scientific article published on May 15, 2003

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scholarly article

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2 November 2019

Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene (English)

1 reference

Europe PubMed Central

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2 November 2019

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene (English)

1 reference

10.1002/AJMG.A.10238

https://api.crossref.org/works/10.1002/AJMG.A.10238

26 December 2023

amino acid replacement

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26 December 2023

1 reference

10.1002/AJMG.A.10238

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26 December 2023

Belinda Campos-Xavier

8

object named as

Ana Bélinda Campos-Xavier

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26 December 2023

author name string

Christel Thauvin-Robinet

1

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2 November 2019

Laurence Faivre

2

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2 November 2019

Patricia Lewin

3

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2 November 2019

Jean-Vital De Monléon

4

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2 November 2019

Catherine François

5

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2 November 2019

Frédéric Huet

6

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2 November 2019

Jean-François Couailler

7

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2 November 2019

Jacky Bonaventure

9

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2 November 2019

Martine Le Merrer

10

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2 November 2019

language of work or name

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26 December 2023

publication date

1 May 2003

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2 November 2019

15 May 2003

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26 December 2023

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.10238

1 reference

10.1002/AJMG.A.10238

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26 December 2023

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.10238

1 reference

10.1002/AJMG.A.10238

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26 December 2023

American Journal of Medical Genetics

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2 November 2019

119A

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2 November 2019

81-84

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2 November 2019

1

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2 November 2019

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Genotype phenotype correlation in achondroplasia and hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

A common FGFR3 gene mutation in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Comparison of clinical-radiological and molecular findings in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Genotype and phenotype in hypochondroplasia.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

Clinical and genetic heterogeneity of hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10238

21 January 2018

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

15

1 reference

10.1002/AJMG.A.10238

https://api.crossref.org/works/10.1002/AJMG.A.10238

26 December 2023

Identifiers

10.1002/AJMG.A.10238

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12707965%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

Europe PubMed Central

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2 November 2019

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