A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
about
A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapyWhole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiologyIdentification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant typeMolecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.Genetics and genomic medicine in Tunisia.
P2860
A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
description
2011 nî lūn-bûn
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2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
A novel POLH gene mutation in ...... henotype-genotype correlation.
@en
type
label
A novel POLH gene mutation in ...... henotype-genotype correlation.
@en
prefLabel
A novel POLH gene mutation in ...... henotype-genotype correlation.
@en
P2093
P2860
P50
P1433
P1476
A novel POLH gene mutation in ...... phenotype-genotype correlation
@en
P2093
Ahlem Amouri
Amel Ben Osman-Dhahri
Amel Mebazaa
Hela Azaiez
Mohamed Zghal
Mourad Mokni
Olfa Riahi
Samir Boubaker
P2860
P2888
P304
P356
10.1007/S12041-011-0101-Y
P577
2011-12-01T00:00:00Z
P5875
P6179
1024631764