(Q55050405)

English

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

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scholarly article

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

1 reference

based on heuristic

inferred from title

Serge B. Melançon

5

object named as

Serge Melançon

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

author name string

Khalid Al-Thihli

1

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

Teresa Rudkin

2

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

Nancy Carson

3

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

Chantal Poulin

4

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

Vazken M Der Kaloustian

6

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

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publication date

1 September 2008

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

146A

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

18

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Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

2412-2416

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32456

21 January 2018

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32456

21 January 2018

Identifiers

10.1002/AJMG.A.32456

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 June 2018

http://europepmc.org/abstract/MED/18698610

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