Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy (Q33588259)

28 July 2017

title

Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy (English)

1 reference

Duchenne muscular dystrophy

28 July 2017

main subject

1 reference

A. M. Davie

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

24 July 2022

A. E. Emery

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

24 July 2022

language of work or name

English

0 references

publication date

1 October 1978

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/739522/pdf/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/739522/?tool=EBI

24 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

http://jmg.bmjjournals.com/cgi/content/abstract/15/5/339

24 July 2022

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

https://europepmc.org/articles/PMC1013728

24 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

https://europepmc.org/articles/PMC1013728?pdf=render

24 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A739522

Journal of Medical Genetics

24 July 2022

published in

1 reference

28 July 2017

volume

15

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28 July 2017

issue

5

1 reference

28 July 2017

page(s)

339-345

1 reference

Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds.

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=1013728

Formal genetics of muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

SERUM ENZYME STUDIES IN MUSCLE DISEASE. III. SERUM CREATINE KINASE ACTIVITY IN RELATIVES OF PATIENTS WITH THE DUCHENNE TYPE OF MUSCULAR DYSTROPHY.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

X-chromosome mosaicism in females with muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Genetic tests under incomplete ascertainment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Muscular dystrophy in Northern Ireland. IV. Some additional data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Mutation rate in Duchenne type of muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Genetic counselling in lethal X-linked disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Gonadal mosaicism and genetic counseling for X-linked recessive lethals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Letter: Mutation in Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Pedigree testing in duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013728

PROGRESSIVE MUSCULAR DYSTROPHY. VI. INCIDENCE, CLINICAL ASPECTS AND GENETICS OF THE DUCHENNE TYPE

31 October 2018

1 reference

12 December 2020

CLINICAL AND BIOCHEMICAL STUDIES IN MYOPATHIES. I. SERUM ENZYMES IN PROGRESSIVE MUSCULAR DYSTROPHY (TYPE I, II, IIIA)

1 reference

12 December 2020

MUSCULAR DYSTROPHY IN NORTHERN IRELAND. V. THE PROGRESS OF THE DISORDER IN BOYS WITH SEX-LINKED MUSCULAR DYSTROPHY WHO WERE FIRST STUDIED BETWEEN 1949 AND 1958

1 reference

12 December 2020

The inheritance of muscular dystrophy: further observations

1 reference

12 December 2020

On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies

1 reference

12 December 2020

Muscular dystrophy in Northern Ireland. II. An account of nine additional families

1 reference

12 December 2020

Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families

1 reference

12 December 2020

An assessment of the creatine kinase test in the detection of carriers of Duchenne muscular dystrophy

1 reference

12 December 2020

The Carrier State in Muscular Dystrophy of the Duchenne Type

1 reference

12 December 2020

The value of serum enzyme determinations in the identification of dystrophic carriers

1 reference

12 December 2020

Spontaneous mutation in man

1 reference

12 December 2020

Carrier Detection in Duchenne Muscular Dystrophy

1 reference

12 December 2020

An improved procedure for serum creatine phosphokinase determination

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.15.5.339

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=739522

24 July 2022

1 reference

28 July 2017

1 reference