(Q37180610)

18 August 2017

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. (English)

1 reference

18 August 2017

4

Mary M Reilly

1 reference

18 August 2017

Henry Houlden

1

1 reference

18 August 2017

Simon Hammans

series ordinal

2

1 reference

18 August 2017

Haider Katifi

series ordinal

3

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 February 2009

1 reference

18 August 2017

1 reference

18 August 2017

72

1 reference

18 August 2017

7

1 reference

18 August 2017

617-620

1 reference

Frabin and other related Cdc42-specific guanine nucleotide exchange factors couple the actin cytoskeleton with the plasma membrane

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Autosomal recessive forms of hereditary motor and sensory neuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Autosomal recessive forms of Charcot-Marie-Tooth disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2677538

Autosomal recessive hereditary motor and sensory neuropathy

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19221294

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/01.WNL.0000342463.35089.CC

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19221294

1 reference