(Q52973332)

10 May 2018

title

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. (English)

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10 May 2018

author name string

Toliat MR

1

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10 May 2018

Erdogan F

2

1 reference

10 May 2018

Gewies A

3

1 reference

10 May 2018

Fahsold R

4

1 reference

10 May 2018

Buske A

5

1 reference

10 May 2018

Tinschert S

6

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10 May 2018

Nürnberg P

7

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10 May 2018

publication date

1 February 2000

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10 May 2018

published in

Electrophoresis

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10 May 2018

volume

21

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10 May 2018

page(s)

541-544

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10 May 2018

issue

3

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10 May 2018

Identification and characterization of the gene for neurofibromatosis type 1.

cites work

1 reference

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The neurofibromatosis type 1 gene encodes a protein related to GAP

21 January 2018

1 reference

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21 January 2018

1 reference

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[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

21 January 2018

1 reference

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Mutation detection by denaturing gradient gel electrophoresis (DGGE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291522-2683%2820000201%2921%3A3%3C541%3A%3AAID-ELPS541%3E3.0.CO%3B2-L

Temperature-gradient gel electrophoresis of nucleic acids: analysis of conformational transitions, sequence variations, and protein-nucleic acid interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291522-2683%2820000201%2921%3A3%3C541%3A%3AAID-ELPS541%3E3.0.CO%3B2-L

Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis

21 January 2018

1 reference

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Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291522-2683%2820000201%2921%3A3%3C541%3A%3AAID-ELPS541%3E3.0.CO%3B2-L

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291522-2683%2820000201%2921%3A3%3C541%3A%3AAID-ELPS541%3E3.0.CO%3B2-L

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

21 January 2018

1 reference

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Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291522-2683%2820000201%2921%3A3%3C541%3A%3AAID-ELPS541%3E3.0.CO%3B2-L

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291522-2683%2820000201%2921%3A3%3C541%3A%3AAID-ELPS541%3E3.0.CO%3B2-L

10.1002/(SICI)1522-2683(20000201)21:3<541::AID-ELPS541>3.0.CO;2-L

21 January 2018

Identifiers

DOI

1 reference

10 May 2018

PubMed ID

10726756

1 reference

10 May 2018