(Q72567865)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

M H Shen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

M Upadhyaya

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

publication date

1 October 1993

1 reference

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27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

410-412

1 reference

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27 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01247346

27 October 2019

exact match

0 references

cites work

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

1 reference

12 December 2020

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

1 reference

12 December 2020

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

1 reference

12 December 2020

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

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

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

12 December 2020

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

1 reference

12 December 2020

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

1 reference

12 December 2020

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

1 reference

12 December 2020

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

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

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

12 December 2020

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 reference

12 December 2020

Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.

1 reference

12 December 2020

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01247346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8225323%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference