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PMP22 gene

Known as: HNPP, Peripheral Myelin Protein 22 Gene, PERIPHERAL MYELIN PROTEIN 22 
This protein plays a role in the maintenance of myelin.
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Wnt/β-catenin signaling plays a major role in the development of the nervous system and contributes to neuronal plasticity… Expand
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Review
2003
Review
2003
Three genes commonly causing Charcot-Marie-Tooth disease (CMT) encode myelin-related proteins: peripheral myelin protein 22… Expand
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Review
1999
Review
1999
The peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ, P0), and the connexin 32 gene (Cx32, GJB1) code… Expand
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Highly Cited
1999
Highly Cited
1999
A partial duplication of chromosome 17 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating peripheral… Expand
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Highly Cited
1998
Highly Cited
1998
Charcot-Marie-Tooth disease type 1A is most commonly caused by a duplication of a 1.5 Mb region of chromosome 17 which includes… Expand
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Highly Cited
1998
Highly Cited
1998
An improved in situ hybridization technique, HNPP-FISH, using 2-hydroxy-3-naphthoic acid 2'-phenylanilide phosphate (HNPP) and… Expand
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Highly Cited
1998
Highly Cited
1998
Nonconservative point mutations of the peripheral myelin protein 22 (PMP22) are associated with Charcot-Marie-Tooth type 1A… Expand
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Highly Cited
1997
Highly Cited
1997
Abstract Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are two inherited… Expand
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Highly Cited
1993
Highly Cited
1993
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder that causes episodes of focal… Expand
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Highly Cited
1993
Highly Cited
1993
Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance… Expand
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