| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00586 | Epidermolysis bullosa, junctional |
| H00615 | Amelogenesis imperfecta |
|
|---|
| Reference |
|
|---|
| Authors |
Pulkkinen L, Uitto J |
|---|
| Title |
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J |
|---|
| Title |
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC |
|---|
| Title |
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
