Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
about
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.
P2860
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
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name
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
@en
type
label
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
@en
prefLabel
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
@en
P2093
P1433
P1476
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
@en
P2093
Adnan Yuksel
Asuman Koparir
Borum Sagong
Byeonghyeon Lee
Jae Young Choi
Kyu-Yup Lee
Mehmet Bugrahan Duz
Mehmet Seven
Un-Kyung Kim
P304
P356
10.1016/J.GENE.2015.11.006
P407
P433
P50
P577
2015-11-06T00:00:00Z