(Q34568254)

English

Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA

scientific article published on March 15, 1991

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA (English)

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

genetic carrier screening

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676565

26 October 2022

author name string

MacLeod PM

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

P. J. Bridge

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676565

26 October 2022

P. M. MacLeod

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676565

26 October 2022

D. P. Lillicrap

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1676565

26 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1676565

26 October 2022

publication date

1 March 1991

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

15 March 1991

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1676565

26 October 2022

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320380423

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320380423

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

38

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

616-621

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Germline mosaicism and Duchenne muscular dystrophy mutations

1

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

2

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Helvetica paediatrica acta

4

42

337

author name string

Boltshauser

publication date

1987

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Molecular diagnosis of the fragile X [Fra (X)] syndrome: calculation of risks based on flanking DNA markers in small phase-unknown families

6

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

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

8

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Report of the committee on the genetic constitution of the X and Y chromosomes

10

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Individual exons encode the integral membrane domains of human myelin proteolipid protein

11

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Lipophilin (PLP) gene in X-linked myelin disorders

12

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Mosaicism and sporadic haemophilia: implications for carrier determination

15

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Molecular Biology and Medicine

17

5

23

author name string

Higuchi

publication date

1988

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

18

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

19

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease

20

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

21

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Report of the committee on the genetic constitution of the X chromosome

22

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Report of the committee on the genetic constitution of the X chromosome

23

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome

24

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Cytogenetics and Cell Genetics

28

51

1093

author name string

Trofatter

publication date

1989

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

29

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Cytogenetics and Cell Genetics

31

46

716

author name string

Willard

publication date

1987

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders

32

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Germinal mosaicism in Duchenne muscular dystrophy

33

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone

34

1 reference

10.1002/AJMG.1320380423

https://api.crossref.org/works/10.1002/AJMG.1320380423

26 October 2022

Identifiers

10.1002/AJMG.1320380423

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34568254&oldid=1758661774"