An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.
about
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.
P2860
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
An effective combination of wh ...... ia in consanguineous families.
@en
type
label
An effective combination of wh ...... ia in consanguineous families.
@en
prefLabel
An effective combination of wh ...... ia in consanguineous families.
@en
P2093
P2860
P1433
P1476
An effective combination of wh ...... ia in consanguineous families.
@en
P2093
Dong-Yuan Zheng
Hua-Mei Chen
Xin-Gang Huang
Yi-Feng Yang
Zhi-Ping Tan
P2860
P2888
P356
10.1038/S41598-017-08510-Z
P407
P577
2017-08-11T00:00:00Z