| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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|---|
| Disease |
| H00264 | Charcot-Marie-Tooth disease |
| H01296 | Hereditary neuropathy with liability to pressure palsies |
| H01436 | Guillain-Barre syndrome |
| H02359 | Dejerine-Sottas disease |
|
|---|
| Reference |
|
|---|
| Authors |
Jung NY, Kwon HM, Nam DE, Tamanna N, Lee AJ, Kim SB, Choi BO, Chung KW |
|---|
| Title |
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients. |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R |
|---|
| Title |
HNPP due to a novel missense mutation of the PMP22 gene. |
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| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G |
|---|
| Title |
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Korn-Lubetzki I, Argov Z, Raas-Rothschild A, Wirguin I, Steiner I |
|---|
| Title |
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. |
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| Journal |
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| LinkDB |
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