MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. (Q33796134)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28610567%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India (English)

1 reference

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22 March 2020

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2

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22 March 2020

Meera Purushottam

7

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22 March 2020

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Kiran Polavarapu

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22 March 2020

author name string

Sekar Deepha

1

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22 March 2020

Veeramani Preethish-Kumar

3

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22 March 2020

Atchayaram Nalini

5

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22 March 2020

Narayanappa Gayathri

6

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22 March 2020

publication date

13 June 2017

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22 March 2020

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22 March 2020

volume

18

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22 March 2020

issue

1

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22 March 2020

page(s)

67

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Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies

22 March 2020

cites work

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4 July 2018

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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

4 July 2018

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Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

4 July 2018

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Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.

4 July 2018

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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

4 July 2018

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4 July 2018

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Duchenne and Becker muscular dystrophies: an Indian update on genetics and rehabilitation

4 July 2018

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Optimizing exon skipping therapies for DMD.

4 July 2018

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4 July 2018

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Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

4 July 2018

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Hybrid spectrin type repeats produced by exon-skipping in dystrophin

4 July 2018

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Experience and strategy for the molecular testing of Duchenne muscular dystrophy

4 July 2018

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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

4 July 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

4 July 2018

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Function and genetics of dystrophin and dystrophin-related proteins in muscle

4 July 2018

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4 July 2018

The muscular dystrophies

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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

4 July 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

4 July 2018

1 reference

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5470271

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

4 July 2018

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Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

4 July 2018

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Population frequencies of inherited neuromuscular diseases—A world survey

4 July 2018

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MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

4 July 2018

1 reference

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Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

21 January 2018

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Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India.

21 January 2018

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A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study.

21 January 2018

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Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients.

21 January 2018

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Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.

21 January 2018

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Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy.

21 January 2018

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Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

21 January 2018

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Dystrophin is phosphorylated by endogenous protein kinases

21 January 2018

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Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy

21 January 2018

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Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

21 January 2018

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Prevalence and incidence of Becker muscular dystrophy

30 October 2018

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12 December 2020

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

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12 December 2020

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

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12 December 2020

Becker muscular dystrophy severity is linked to the structure of dystrophin

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12 December 2020

Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients

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12 December 2020

Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients

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12 December 2020

Phosphorylation of dystrophin:effects on actin binding

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12 December 2020

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Identifiers

DOI

1 reference

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Dimensions Publication ID

22 March 2020

0 references

1 reference

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22 March 2020

PubMed publication ID

28610567

1 reference