(Q41081244)

26 September 2017

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301995

10 September 2022

9

Patel PI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301995

10 September 2022

author name string

Lupski JR

1

1 reference

26 September 2017

Wise CA

2

1 reference

26 September 2017

Kuwano A

3

1 reference

26 September 2017

Pentao L

4

1 reference

26 September 2017

Parke JT

5

1 reference

26 September 2017

Glaze DG

6

1 reference

26 September 2017

Ledbetter DH

7

1 reference

26 September 2017

Greenberg F

8

1 reference

26 September 2017

language of work or name

English

0 references

publication date

1 April 1992

1 reference

26 September 2017

1 reference

26 September 2017

1

1 reference

26 September 2017

29-33

1 reference

26 September 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1038/ng0492-29

26 September 2017

0 references

cites work

Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia

1 reference

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

21 January 2018

1 reference

7 January 2021

Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk

1 reference

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

7 January 2021

A genetic map of human chromosome 17p

1 reference

7 January 2021

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

1 reference

7 January 2021

De novo tandem duplication 17p11 leads to cen.

1 reference

7 January 2021

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

1 reference

7 January 2021

A mapped set of DNA markers for human chromosome 17.

1 reference

7 January 2021

Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors

1 reference

7 January 2021

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

7 January 2021

Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17

1 reference

7 January 2021

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0492-29

1 reference

Dimensions Publication ID

26 September 2017

0 references

1 reference