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Exome sequencing identifies SLC24A5 as a candidate gene for non-syndromic oculocutaneous albinism
期刊名称:J Invest Dermatol
时间:0
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相关项目:基于核心家系的外显子组测序鉴定眼皮肤白化病致病基因
作者:
Zang DJ|He X|Dai LL|Yang L|Wang Y|Zhou ZY|Zhang Z|Yang Q|Li W|
同期刊论文项目
基于核心家系的外显子组测序鉴定眼皮肤白化病致病基因
期刊论文 24
同项目期刊论文
Genetic analyses of Chinese patients with digenic oculocutaneous albinism
Increasing the complexity: new genes and new types of albinism
Genetic analyses of Chinese patients with compound oculocutaneous albinism
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified allele
Increasing the complexity: new genes and new types of albinism.
The BLOS1 interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Hypopigmentation in Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and pathogenesis.
Hypopigmentation in Hermansky-Pudlak syndrome.
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.