| Entry |
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| Name |
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| Type |
Loss of function
|
|---|
| 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 |
| H00155 | Familial hypercholesterolemia |
|
|---|
| Reference |
|
|---|
| Authors |
Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM |
|---|
| Title |
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
De Castro-Oros I, Pocovi M, Civeira F |
|---|
| Title |
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Ito MK, Watts GF |
|---|
| Title |
Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia. |
|---|
| Journal |
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|---|
| LinkDB |
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