(Q42950985)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Molecular basis of spinal muscular atrophy in Chinese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

main subject

spinal muscular atrophy

1 reference

1 reference

Chang JG

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Jong YJ

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Huang JM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Wang WS

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Yang TY

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Chang CP

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Chen YJ

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Lin SP

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 December 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

14 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

1503-1505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

Identification and characterization of a spinal muscular atrophy-determining gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

The genetic component in child mortality

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801417

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

27 May 2018

1 reference

12 December 2020

Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533782%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

8533782

1 reference