| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06545 Cornified envelope formation |
|---|
| Disease |
| H00691 | Bullous congenital ichthyosiform erythroderma (BCIE) |
| H00717 | Striate palmoplantar keratoderma |
| H00722 | Epidermolytic palmoplantar keratoderma |
| H02265 | Annular epidermolytic ichthyosis |
|
|---|
| Reference |
|
|---|
| Authors |
Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR |
|---|
| Title |
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD |
|---|
| Title |
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H |
|---|
| Title |
In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. |
|---|
| Journal |
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|---|
| LinkDB |
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