(Q72661956)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

T Horiuchi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

N Hatta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M Matsumoto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

H Ohtsuka

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

F S Collins

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Y Kobayashi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

S Fujita

7

1 reference

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28 October 2019

publication date

1 January 1994

1 reference

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28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

93

1 reference

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28 October 2019

issue

1

1 reference

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28 October 2019

page(s)

81-83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

The neurofibromatosis type 1 gene and its protein product, neurofibromin.

28 October 2019

cites work

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

12 December 2020

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

1 reference

12 December 2020

cDNA cloning and expression of human complement component C2

1 reference

12 December 2020

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

1 reference

12 December 2020

Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene

1 reference

12 December 2020

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00218920

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7903661%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference