(Q52020940)

English

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Roland G. Roberts

3

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

author name string

Tuffery S

1

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Lenk U

2

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Coubes C

4

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Demaille J

5

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Claustres M

6

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

6

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

2

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

126-135

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

Direct carrier testing of haemophilia B by SSCP.

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The structural and functional diversity of dystrophin

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Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

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A suggested nomenclature for designating mutations.

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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

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Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development

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Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

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An alternative dystrophin transcript specific to peripheral nerve

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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

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Transcription of the dystrophin gene in human muscle and non-muscle tissue

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Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

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Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

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Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.

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Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability

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Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma

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Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues

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Illegitimate transcription: its use in the study of inherited disease

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Detection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophy

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues

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A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene.

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Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

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Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin

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7 January 2021

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

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Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

1 reference

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7 January 2021

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A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

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Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.

1 reference

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Exon structure of the human dystrophin gene

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Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

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Protein truncation test (PTT) for rapid detection of translation-terminating mutations

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Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site

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Primary structure of dystrophin-related protein

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A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene

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Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique

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Identifiers

10.1002/HUMU.1380060205

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/7581396

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