(Q52009024)

English

A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

scientific article published in March 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

0 references

author name string

T Takechi

1

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

J Tohyama

2

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

T Kurashige

3

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

K Maruta

4

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

K Uyemura

5

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

T Ohi

6

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

S Matsukura

7

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

N Sakuragawa

8

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

publication date

1 March 1996

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

97

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

3

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

353-356

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked hydrocephalus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A duplication in the L1CAM gene associated with X-linked hydrocephalus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation associated with bilateral clasp thumb anomaly.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8786080

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S004390050049

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

release_ffevvplsb5b5dh3htv4et5g4mi

1 reference

https://api.fatcat.wiki/v0/release/ffevvplsb5b5dh3htv4et5g4mi

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8786080

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