(Q72257353)

English

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

scientific article published on 01 March 1995

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

A Superti-Furga

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

G Eich

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

H U Bucher

3

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25 October 2019

J Wisser

4

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25 October 2019

A Giedion

5

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25 October 2019

R Gitzelmann

6

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25 October 2019

B Steinmann

7

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25 October 2019

publication date

1 March 1995

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25 October 2019

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

154

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25 October 2019

3

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25 October 2019

215-219

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25 October 2019

https://scigraph.springernature.com/pub.10.1007/bf01954274

0 references

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene for achondroplasia maps to the telomeric region of chromosome 4p

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A distinctive family of embryonic protein-tyrosine kinase receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Standards for limb bone length ratios in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ligand specificity and heparin dependence of fibroblast growth factor receptors 1 and 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7758520

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF01954274

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7758520%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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