(Q72017465)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012397%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

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

1 reference

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22 October 2019

5

Gusella JF

1 reference

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22 October 2019

author name string

Velinov M

1

1 reference

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22 October 2019

Slaugenhaupt SA

2

1 reference

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22 October 2019

Stoilov I

3

1 reference

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22 October 2019

Scott CI Jr

4

1 reference

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22 October 2019

Tsipouras P

6

1 reference

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22 October 2019

publication date

1 March 1994

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22 October 2019

1 reference

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22 October 2019

volume

6

1 reference

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22 October 2019

issue

3

1 reference

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22 October 2019

page(s)

314-317

1 reference

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Homozygous achondroplasia with survival beyond infancy

22 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Homozygous achondroplasia: morphologic and biochemical study of cartilage

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Achondroplasia is not caused by mutation in the gene for type II collagen

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

A second-generation linkage map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

New DNA markers in the Huntington's disease gene candidate region

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

A novel G protein-coupled receptor kinase gene cloned from 4p16.3

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

A gene from chromosome 4p16.3 with similarity to a superfamily of transporter proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Characterization of the human HOX 7 cDNA and identification of polymorphic markers

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

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/10.1038%2FNG0394-314

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

A dinucleotide repeat polymorphism at the D4S127 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

A genetic linkage map of the chromosome 4 short arm.

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Construction of multilocus genetic linkage maps in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-314

7 January 2021

Identifiers

DOI

10.1038/NG0394-314

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8012397%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference