Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
about
A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.Survey of prenatal testing for genetic disorders in Japan: Recent report.Hereditary Disorders with Defective Repair of UV-Induced DNA Damage.Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.
P2860
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@ast
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@en
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@nl
type
label
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@ast
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@en
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@nl
prefLabel
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@ast
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@en
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@nl
P2093
P2860
P1476
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
@en
P2093
Daisuke Fujita
Jun Kohyama
Masahide Ohmichi
Masahiro Takigawa
Sachiko Nakamura
Shinichi Moriwaki
Yoshiki Yamashita
P2860
P304
P356
10.1111/J.1346-8138.2011.01425.X
P577
2011-12-14T00:00:00Z