(Q33597660)

28 July 2017

title

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci (English)

1 reference

28 July 2017

Thomas NS

1 reference

28 July 2017

Williams H

1 reference

28 July 2017

Cole G

1 reference

28 July 2017

Roberts K

1 reference

28 July 2017

Clarke A

1 reference

28 July 2017

Liechti-Gallati S

1 reference

28 July 2017

Braga S

1 reference

28 July 2017

Gerber A

1 reference

28 July 2017

Meier C

1 reference

28 July 2017

Moser H

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1990

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

28 July 2017

page(s)

284-287

1 reference

Neonatal Myotubular Myopathy: Neuropathy and Failure of Postnatal Maturation of Fetal Muscle

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=1017076

Easy calculations of lod scores and genetic risks on small computers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

Molecular genetics of inherited variation in human color vision

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

X-linked myotubular myopathy with fatal neonatal asphyxia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017076

Infantile centronuclear myopathy. Evidence suggesting incomplete innervation

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2352256

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2352256

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2352256

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.27.5.284

1 reference

28 July 2017

1 reference

28 July 2017

1 reference