(Q30443030)

4 November 2017

Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis (English)

1 reference

4 November 2017

spinal muscular atrophy

1 reference

1 reference

Parsons DW

1

1 reference

4 November 2017

McAndrew PE

2

1 reference

4 November 2017

Allinson PS

3

1 reference

4 November 2017

Parker WD Jr

4

1 reference

4 November 2017

Burghes AH

5

1 reference

4 November 2017

Prior TW

6

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 August 1998

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

35

1 reference

4 November 2017

8

1 reference

4 November 2017

674-676

1 reference

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

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.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

Identification and characterization of a spinal muscular atrophy-determining gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051396

Classification of spinal muscular atrophies

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9719377

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9719377

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9719377

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.8.674

1 reference

4 November 2017

1 reference

4 November 2017

PubMed publication ID

9719377

1 reference