Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect (Q33900269)

29 July 2017

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect (English)

1 reference

alternative mRNA splicing, via spliceosome

29 July 2017

1 reference

3

L K Newby

1 reference

29 July 2017

H Morisaki

1

1 reference

29 July 2017

T Morisaki

series ordinal

2

1 reference

29 July 2017

E W Holmes

series ordinal

4

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 May 1993

1 reference

Journal of Clinical Investigation

29 July 2017

1 reference

29 July 2017

91

1 reference

29 July 2017

5

1 reference

29 July 2017

2275-2280

1 reference

Familial myoadenylate deaminase deficiency and exertional myalgia

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Isolation and characterization of human muscle cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Development of 3T3-like lines from Balb-c mouse embryo cultures: transformation susceptibility to SV40.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Expression of three stage-specific transcripts of AMP deaminase during myogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Expression of MyoD1 coincides with terminal differentiation in determined but inducible muscle cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

A human beta-actin expression vector system directs high-level accumulation of antisense transcripts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

A novel pathway for alternative splicing: identification of an RNA intermediate that generates an alternative 5' splice donor site not present in the primary transcript of AMPD1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Adenylate deaminase. A multigene family in humans and rats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Characterization of the human and rat myoadenylate deaminase genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Molecular basis of AMP deaminase deficiency in skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Molecular analysis of the myoadenylate deaminase deficiencies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Myoadenylate Deaminase Deficiency: A New Disease of Muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

DNA sequencing with chain-terminating inhibitors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288231

Electrophoresis in agarose and acrylamide gels

5 July 2018

1 reference

12 December 2020

Enzymes for modifying and labeling DNA and RNA

1 reference

12 December 2020

Myoadenylate deaminase deficiency

1 reference

12 December 2020

Adenosine Deaminase Deficiency Without Immunodeficiency: Clinical and Metabolic Studies

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI116455

1 reference

29 July 2017

1 reference

29 July 2017

1 reference