(Q33629502)

28 July 2017

title

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR (English)

1 reference

28 July 2017

Tae-Mi Lee

1

1 reference

28 July 2017

Sang-Wun Kim

2

1 reference

28 July 2017

Kwang-Soo Lee

3

1 reference

28 July 2017

Hyun-Seok Jin

4

1 reference

28 July 2017

Soo Kyung Koo

5

1 reference

28 July 2017

Inho Jo

6

1 reference

28 July 2017

Seongman Kang

7

1 reference

28 July 2017

Sung-Chul Jung

8

1 reference

28 July 2017

publication date

1 December 2004

1 reference

Journal of Korean Medical Science

28 July 2017

published in

1 reference

28 July 2017

volume

19

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28 July 2017

issue

6

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28 July 2017

page(s)

870-873

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Creative Commons Attribution-NonCommercial 3.0 Unported

28 July 2017

copyright license

start time

1 January 2004

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

21 June 2018

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Lack of evidence for contribution of Glu298Asp (G894T) polymorphism of endothelial nitric oxide synthase gene to plasma nitric oxide levels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Identification and characterization of a spinal muscular atrophy-determining gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2816285

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

30 October 2018

1 reference

12 December 2020

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

12 December 2020

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

1 reference

12 December 2020

Classification of spinal muscular atrophies

1 reference

12 December 2020

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

1 reference

12 December 2020

10.3346/JKMS.2004.19.6.870

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference