(Q46439667)

English

Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth

scientific article published in June 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

author name string

D H Cohn

1

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

language of work or name

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publication date

1 June 1996

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

Annals of the New York Academy of Sciences

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

785

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

160-163

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Thanatophoric dysplasia and cloverleaf skull

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56254.X

21 January 2018

Identifiers

10.1111/J.1749-6632.1996.TB56254.X

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 December 2017

http://europepmc.org/abstract/MED/8702122

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