(Q70485039)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

author name string

Jouet M

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

Rosenthal A

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

MacFarlane J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

Kenwrick S

4

1 reference

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11 October 2019

Donnai D

5

1 reference

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11 October 2019

publication date

1 August 1993

1 reference

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11 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

4

1 reference

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11 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

page(s)

331

1 reference

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11 October 2019

cites work

X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Regulation of axonal growth in the vertebrate nervous system by interactions between glycoproteins belonging to two subgroups of the immunoglobulin superfamily

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Molecular cloning of cDNA encoding the rat neural cell adhesion molecule L1. Two L1 isoforms in the cytoplasmic region are produced by differential splicing

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Structure of the chicken neuron-glia cell adhesion molecule, Ng-CAM: origin of the polypeptides and relation to the Ig superfamily

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Drosophila neuroglian: a member of the immunoglobulin superfamily with extensive homology to the vertebrate neural adhesion molecule L1.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Molecular structure and functional testing of human L1CAM: an interspecies comparison

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-331

7 January 2021

Identifiers

DOI

10.1038/NG0893-331

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401576%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

1 reference