(Q48142339)

9 February 2018

title

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. (English)

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9 February 2018

author

Chien-Nan Lee

4

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9 February 2018

author name string

Yi-Ning Su

1

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9 February 2018

Chia-Cheng Hung

2

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9 February 2018

Hung Li

3

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9 February 2018

Wen-Fang Cheng

5

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9 February 2018

Po-Nien Tsao

6

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9 February 2018

Ming-Cheng Chang

7

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9 February 2018

Chia-Li Yu

8

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9 February 2018

Wu-Shiun Hsieh

9

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9 February 2018

Win-Li Lin

10

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9 February 2018

Su-Ming Hsu

11

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9 February 2018

publication date

1 May 2005

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

25

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9 February 2018

issue

5

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9 February 2018

page(s)

460-467

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9 February 2018

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20160

Determination of SMN1 and SMN2 copy number using TaqMan technology

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7 January 2021

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

SMN dosage analysis and risk assessment for spinal muscular atrophy

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7 January 2021

Genetic risk assessment in carrier testing for spinal muscular atrophy

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7 January 2021

Spinal muscular atrophy: molecular genetics and diagnostics.

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7 January 2021

Classification of spinal muscular atrophies

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

Best practice guidelines for molecular analysis in spinal muscular atrophy

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20160

7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20160

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9 February 2018

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9 February 2018