(Q49075460)

English

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

scientific article published in January 2000

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scholarly article

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Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

author name string

Messiaen LM

1

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Callens T

2

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Mortier G

3

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Beysen D

4

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Vandenbroucke I

5

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Van Roy N

6

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Speleman F

7

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Paepe AD

8

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

publication date

1 January 2000

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

15

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

6

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

541-555

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C541%3A%3AAID-HUMU6%3E3.0.CO%3B2-N

21 January 2018

Identifiers

10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 February 2018

http://europepmc.org/abstract/MED/10862084

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