| Entry |
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|---|
| Name |
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| Type |
Loss of function
|
|---|
| Gene |
GP1BA glycoprotein Ib platelet subunit alpha [KO: K06261]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
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| Disease |
| H02093 | Platelet-type von Willebrand disease |
|
|---|
| Reference |
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|---|
| Authors |
Ware J, Russell SR, Vicente V, Scharf RE, Tomer A, McMillan R, Ruggeri ZM |
|---|
| Title |
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Russell SD, Roth GJ |
|---|
| Title |
Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. |
|---|
| Journal |
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|---|
| LinkDB |
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