(Q51817532)

English

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

scientific article published on 17 February 2009

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scholarly article

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. (English)

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

author name string

Zacharias Aloysius Dwi Pramono

1

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Chin Lai Tan

2

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Irene Ai Lian Seah

3

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Joseph Shean Long See

4

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Siok Yuen Kam

5

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Poh San Lai

6

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

Woon Chee Yee

7

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

publication date

17 February 2009

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

125

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

4

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

413-420

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

https://scigraph.springernature.com/pub.10.1007/s00439-009-0632-y

0 references

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0632-Y

21 January 2018

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control selection for RNA quantitation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysferlin and the plasma membrane repair in muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developmental and tissue-specific regulation of a novel dysferlin isoform.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of podocyte dysferlin expression is associated with minimal change nephropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysferlin is a plasma membrane protein and is expressed early in human development

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of gene expression by alternative promoters

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel CAV3 gene mutations in Japanese families

1 reference

https://pubmed.ncbi.nlm.nih.gov/19221801

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-009-0632-Y

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

1 reference

Europe PubMed Central

13 April 2018

http://europepmc.org/abstract/MED/19221801

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