Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
about
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli diseaseAcral freckling with palmar pits.Discovery in genetic skin disease: the impact of high throughput genetic technologiesUpdated review of genetic reticulate pigmentary disorders.Acropigmentation of Kitamura with immigration delay disease: A rare entity.Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.Speckled acral hypopigmentation in an adolescent.Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.
P2860
Q34114270-E45A3E50-D963-4E2E-84B8-6B7B42CB132EQ35631247-8AB56D09-07C8-454C-861F-8BFF9E23E711Q38237121-260E6115-12F1-41E4-923E-397FFC7EB463Q39240567-D93C9EC6-2423-42A2-BB24-858D156DD8C6Q40916739-9AB82082-7A32-4408-8978-3963BDB4F851Q45756451-1BD611BC-CD21-464B-B4BF-496C47861918Q48256624-57E80B69-5D6C-401C-B0A8-8CB1769130F8Q49382946-10AA2A1B-C9A7-417F-A624-4E8C6EB74E34
P2860
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@en
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@nl
type
label
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@en
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@nl
prefLabel
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@en
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@nl
P2093
P2860
P356
P1476
Whole-exome sequencing identif ...... ct from Dowling-Degos disease.
@en
P2093
Hiromichi Takama
Kayoko Matsunaga
Kazumitsu Sugiura
Masahiro Hayashi
Masashi Akiyama
Michihiro Kono
Mutsumi Suganuma
Tamio Suzuki
Yasushi Tomita
P2860
P304
P356
10.1093/HMG/DDT207
P577
2013-05-10T00:00:00Z