(Q33594998)

28 July 2017

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title

Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future (English)

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28 July 2017

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Baranov VS

1

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28 July 2017

language of work or name

English

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publication date

1 February 1993

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

30

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28 July 2017

issue

2

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28 July 2017

page(s)

141-146

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A novel frameshift mutation causing beta-thalassaemia in Azerbaijan.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

A crude lysate of cells immobilized on solid support can serve as a matrix for enzymatic DNA amplification

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

Prenatal diagnosis of haemophilia A by the polymerase chain reaction using the intragenic hind III polymorphism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

Molecular nature of mutations causing beta zero-thalassaemia in Azerbaijan.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

Simple and convenient detection of a HindIII polymorphic site in intron 19 of factor VIII using PCR.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016272

Complex molecular structure of the gene coding for rat ceruloplasmin

14 July 2018

1 reference

12 December 2020

Chromosomal localization of ceruloplasmin and transferrin genes in laboratory rats, mice and in man by hybridization with specific DNA probes

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12 December 2020

Polymerase chain reaction amplification from dried blood spots on Guthrie cards

1 reference

12 December 2020

Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.

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12 December 2020

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

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12 December 2020

Identifiers

DOI

10.1136/JMG.30.2.141

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28 July 2017

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28 July 2017

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