(Q44377406)

2 December 2017

title

Carrier incidence for spinal muscular atrophy in southern Chinese (English)

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2 December 2017

main subject

spinal muscular atrophy

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Vivian Chan

1

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2 December 2017

Ben Yip

2

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2 December 2017

Irene Yam

3

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2 December 2017

Patrick Au

4

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2 December 2017

Che-Kit Lin

5

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2 December 2017

Virginia Wong

6

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2 December 2017

Tai-Kwong Chan

7

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2 December 2017

publication date

1 September 2004

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2 December 2017

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2 December 2017

volume

251

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2 December 2017

issue

9

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2 December 2017

page(s)

1089-1093

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https://scigraph.springernature.com/pub.10.1007/s00415-004-0487-z

2 December 2017

exact match

0 references

cites work

Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Real time quantitative PCR

1 reference

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

SMN dosage analysis and risk assessment for spinal muscular atrophy

1 reference

12 December 2020

Use of a fluorogenic probe in a PCR-based assay for the detection of Listeria monocytogenes.

1 reference

12 December 2020

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetic study of a childhood form of spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Quantitative polymerase chain reaction for the rapid prenatal diagnosis of homozygous alpha-thalassaemia (Hb Barts hydrops fetalis)

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

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12 December 2020

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00415-004-0487-Z

Identifiers

DOI

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2 December 2017

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