(Q33677359)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

title

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

author name string

A Oterino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

F I Montón

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

V M Cabrera

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

A Gonzalez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

N R Lavilla

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

language of work or name

English

0 references

publication date

1 May 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

17 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

page(s)

413-415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

Nonisotopic discontinuous phase single strand conformation polymorphism (DP-SSCP): genetic profiling of D-loop of human mitochondrial (mt) DNA.

17 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Connexin mutations in X-linked Charcot-Marie-Tooth disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Dinucleotide repeat polymorphism at the PGK1 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Dinucleotide repeat polymorphisms at the DXS453, DXS454 and DXS458 loci

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Simple procedure of DNA isolation from human serum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Dinucleotide repeat polymorphism at the PGK1P1 locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Genetic analysis using fingernail DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Identification of a proline residue as a transduction element involved in voltage gating of gap junctions.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050613

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

30 October 2018

1 reference

12 December 2020

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

12 December 2020

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1 reference

12 December 2020

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32

1 reference

12 December 2020

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

Prevalence of hereditary motor and sensory neuropathy in Cantabria

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.5.413

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

release_bkfe44he2fd25nc7ez2vs27sum

17 October 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bkfe44he2fd25nc7ez2vs27sum

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8733054%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

PubMed publication ID

8733054

1 reference