(Q48235478)

9 February 2018

title

Deletion analysis in Turkish patients with spinal muscular atrophy (English)

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9 February 2018

main subject

spinal muscular atrophy

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Erdem H

1

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9 February 2018

Pehlivan S

series ordinal

2

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9 February 2018

Topaloglu H

series ordinal

3

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9 February 2018

Ozgüç M

series ordinal

4

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9 February 2018

publication date

1 March 1999

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9 February 2018

published in

Brain and Development

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9 February 2018

volume

21

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9 February 2018

issue

2

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9 February 2018

page(s)

86-89

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9 February 2018

Infantile muscular atrophy

cites work

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Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

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7 January 2021

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

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https://api.crossref.org/works/10.1016%2FS0387-7604%2898%2900063-1

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Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies

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7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

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Structure and organization of the human survival motor neurone (SMN) gene

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7 January 2021

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

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7 January 2021

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

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https://api.crossref.org/works/10.1016%2FS0387-7604%2898%2900063-1

7 January 2021

Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2898%2900063-1

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2898%2900063-1

7 January 2021

Advances in SMA research: review of gene deletions

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Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH

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7 January 2021

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PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

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7 January 2021

Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy

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7 January 2021

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

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7 January 2021

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

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7 January 2021

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

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7 January 2021

Gene deletions in spinal muscular atrophy

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7 January 2021

Spinal muscular atrophy--clinical and genetic correlations

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7 January 2021

From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy

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7 January 2021

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

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7 January 2021

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2898%2900063-1

7 January 2021

10.1016/S0387-7604(98)00063-1

Identifiers

DOI

1 reference

9 February 2018

1 reference

9 February 2018