(Q77346155)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

Pelizaeus-Merzbacher disease

4 December 2019

main subject

1 reference

K Woodward

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

R Palmer

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

K Rao

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

S Malcolm

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

publication date

1 March 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

page(s)

266-268

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

4 December 2019

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

cites work

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199903%2919%3A3%3C266%3A%3AAID-PD515%3E3.0.CO%3B2-%23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199903%2919%3A3%3C266%3A%3AAID-PD515%3E3.0.CO%3B2-%23

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199903%2919%3A3%3C266%3A%3AAID-PD515%3E3.0.CO%3B2-%23

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199903%2919%3A3%3C266%3A%3AAID-PD515%3E3.0.CO%3B2-%23

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199903%2919%3A3%3C266%3A%3AAID-PD515%3E3.0.CO%3B2-%23

Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199903%2919%3A3%3C266%3A%3AAID-PD515%3E3.0.CO%3B2-%23

10.1002/(SICI)1097-0223(199903)19:3<266::AID-PD515>3.0.CO;2-#

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10210128%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference