(Q28213608)

1

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A Martin-Gallardo

2

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M FitzGerald

4

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M Dubnick

5

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J M Kelley

6

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L Castilla

7

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L I Liu

8

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S Wallace

9

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S Trapp

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

10

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language of work or name

English

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publication date

August 1992

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published in

Nature Genetics

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volume

1

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issue

5

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page(s)

348-53

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cites work

1 reference

A de novo Alu insertion results in neurofibromatosis type 1

22 April 2017

1 reference

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

22 April 2017

1 reference

Sequence identification of 2,375 human brain genes

22 April 2017

1 reference

The Huntington's disease candidate region exhibits many different haplotypes

22 April 2017

1 reference

Basic local alignment search tool

22 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Huntington's disease. Pathogenesis and management

22 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Retinoblastoma and D-chromosome deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Proposed genetic basis of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

LINE-1: a mammalian transposable element

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

The isochore organization of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

A transpositionally and transcriptionally competent Alu subfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Beyond zinc fingers: steroid hormone receptors have a novel structural motif for DNA recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

The complete DNA sequence of yeast chromosome III

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

The C. elegans genome sequencing project: a beginning

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Caenorhabditis elegans expressed sequence tags identify gene families and potential disease gene homologues

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

A survey of expressed genes in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Retinoblastoma and long arm delection of chromosome 13. Attempts to define the deleted segment

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Retinoblastoma with 13q- Chromosomal Deletion Associated with Maternal Paracentric Inversion of 13q

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A polymorphic DNA marker genetically linked to Huntington's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Mapping of cosmid clones in Huntington's disease region of chromosome 4.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and phylogenetic relationships between African apes and man.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A Ligase-Mediated Gene Detection Technique

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

The Alu Family of Dispersed Repetitive Sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A transposon-like element in human DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

The human growth hormone locus: nucleotide sequence, biology, and evolution

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Automated DNA sequencing of the human HPRT locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

The distribution of interspersed repetitive DNA sequences in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Reconstruction and analysis of human alu genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A human-specific subfamily of Alu sequences.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

CpG-rich islands and the function of DNA methylation

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Improved tools for biological sequence comparison

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Recognition of protein coding regions in DNA sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Complementary DNA sequencing: expressed sequence tags and human genome project

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Isolation of a large number of novel mammalian genes by a differential cDNA library sreening strategy

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Primary structure of rat cardiac beta-adrenergic and muscarinic cholinergic receptors obtained by automated DNA sequence analysis: further evidence for a multigene family

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

A comprehensive set of sequence analysis programs for the VAX

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021

Rapid and reliable fluorescent cycle sequencing of double-stranded templates

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-348

7 January 2021