scholarly journals Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16‐year‐old girl

2021 ◽  
Author(s):  
Carmen Dietrich ◽  
Martin Salzmann ◽  
Enrico Streit ◽  
Ferdinand Toberer ◽  
Steffen Emmert ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Frameshift Mutation ◽  
Variant Type

Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type

2008 ◽  
Vol 52 (2) ◽  
pp. 144-148 ◽  
Author(s):  
Taro Masaki ◽  
Ryusuke Ono ◽  
Miki Tanioka ◽  
Yoko Funasaka ◽  
Tohru Nagano ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Japanese Patients ◽  
Founder Mutations ◽  
Variant Type

Three school-age cases of xeroderma pigmentosum variant type

2013 ◽  
Vol 29 (3) ◽  
pp. 132-139 ◽  
Author(s):  
Ryusuke Ono ◽  
Taro Masaki ◽  
Seiji Takeuchi ◽  
Ayako Shimizu ◽  
Miki Tanioka ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
School Age ◽  
Variant Type

Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type

2018 ◽  
Vol 34 (5) ◽  
pp. 343-346 ◽  
Author(s):  
Won Jin Hong ◽  
Sang Eun Lee ◽  
Mi Ryung Roh ◽  
Jee Eun Kim ◽  
Chikako Nishigori ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
Korean Patient ◽  
Variant Type

scholarly journals Molecular Analysis of DNA Polymerase Eta Gene in Japanese Patients Diagnosed as Xeroderma Pigmentosum Variant Type

2007 ◽  
Vol 127 (7) ◽  
pp. 1745-1751 ◽  
Author(s):  
Miki Tanioka ◽  
Taro Masaki ◽  
Ryusuke Ono ◽  
Tohru Nagano ◽  
Eriko Otoshi-Honda ◽  
...  
Keyword(s):  
Dna Polymerase ◽  
Molecular Analysis ◽  
Xeroderma Pigmentosum ◽  
Japanese Patients ◽  
Variant Type ◽  
Polymerase Eta ◽  
Dna Polymerase Eta

scholarly journals Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early‐onset dementia

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Izadora Fonseca Zaiden Soares ◽  
Denise Maria Christofolini ◽  
Lis Gomes Silva ◽  
David Feder ◽  
Alzira Alves Siqueira Carvalho
Keyword(s):  
Early Onset ◽  
Xeroderma Pigmentosum ◽  
Complex Phenotype ◽  
Early Onset Dementia ◽  
Variant Type ◽  
Novel Variants
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