(Q68304617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

Theoretical expectations for deletional mutations in Duchenne muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Theoretical expectations for deletional mutations in duchenne muscular dystrophy (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Duchenne muscular dystrophy

30 December 2022

main subject

1 reference

Grimm T

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Danieli GA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Muller CR

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=3354618

30 December 2022

publication date

1 February 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

23 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320290230

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320290230

30 December 2022

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

American Journal of Medical Genetics Part A

30 December 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

445-451

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes

23 September 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Frequency of new mutants among boys with Duchenne muscular dystrophy

30 December 2022

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Duchenne muscular dystrophy. Frequency of sporadic cases

30 December 2022

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy

30 December 2022

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Duchenne muscular dystrophy: Collaboration and progress

30 December 2022

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

The rate of spontaneous mutation of a human gene

30 December 2022

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

DNA deletion in boy with Becker muscular dystrophy

30 December 2022

9

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

30 December 2022

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.

30 December 2022

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

30 December 2022

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Mapping the disease phenotype

30 December 2022

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Pedigree testing in duchenne muscular dystrophy

30 December 2022

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships

30 December 2022

15

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Spontaneous mutation in man

30 December 2022

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy

30 December 2022

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

30 December 2022

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

No sex difference in mutations rates of Duchenne muscular dystrophy.

30 December 2022

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

30 December 2022

22

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

30 December 2022

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

30 December 2022

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320290230

30 December 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3354618%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference