(Q34419163)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions (English)

1 reference

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1 November 2019

5

1 reference

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1 November 2019

author name string

T A Carter

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C G Bönnemann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C H Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Obici

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M De Fatima Bonaldo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

B M Ross

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

G K Penchaszadeh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A Mackenzie

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M B Soares

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

L M Kunkel

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

T C Gilliam

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 February 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

published in

Human Molecular Genetics

1 reference

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1 November 2019

volume

6

1 reference

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1 November 2019

page(s)

229-236

1 reference

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1 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9063743%20AND%20SRC:MED&resulttype=core&format=json

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Gene deletions in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Genes for SMA: multum in parvo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

The MO15 cell cycle kinase is associated with the TFIIH transcription-DNA repair factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Xeroderma pigmentosum, Cockayne's syndrome, helicases, and DNA repair: what's the relationship?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.2.229