(Q48198402)

9 February 2018

title

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

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9 February 2018

Xavier Estivill i Pallejà

author

1

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9 February 2018

author name string

C Lázaro

2

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9 February 2018

T Casals

3

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9 February 2018

A Ravella

4

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9 February 2018

publication date

1 December 1991

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9 February 2018

published in

Human Genetics

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9 February 2018

volume

88

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9 February 2018

page(s)

185-188

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9 February 2018

issue

2

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9 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00206069

exact match

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cites work

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

1 reference

12 December 2020

Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation.

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12 December 2020

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

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

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12 December 2020

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa

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Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

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12 December 2020

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both

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12 December 2020

Precise localization of NF1 to 17q11.2 by balanced translocation

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12 December 2020

The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

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12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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12 December 2020

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene

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12 December 2020

The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.

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12 December 2020

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

1 reference

12 December 2020

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

12 December 2020

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

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12 December 2020

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

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12 December 2020

Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

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

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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/BF00206069

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9 February 2018

PubMed ID

1757093

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9 February 2018