(Q48131289)

8 February 2018

title

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

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8 February 2018

author name string

P J Ainsworth

series ordinal

1

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8 February 2018

D I Rodenhiser

series ordinal

2

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8 February 2018

M T Costa

series ordinal

3

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8 February 2018

publication date

1 March 1993

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8 February 2018

published in

Human Genetics

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8 February 2018

volume

91

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8 February 2018

page(s)

151-156

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8 February 2018

issue

2

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8 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00222716

exact match

0 references

cites work

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

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The neurofibromatosis type 1 gene encodes a protein related to GAP

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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

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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DNA sequence polymorphisms in Alu repeats

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

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The CpG dinucleotide and human genetic disease

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CpG-rich islands and the function of DNA methylation

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Identifiers

DOI

10.1007/BF00222716

1 reference

8 February 2018

PubMed ID

8385067

1 reference

8 February 2018