scholarly journals New Heterozygous mutation of protoporphyrinogen oxidase gene in a case of variegate porphyria in Taiwan

2020 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Min-Hui Chi ◽  
Meng-Han Shen ◽  
Tseng-Tong Kuo
Keyword(s):  
Heterozygous Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria

2017 ◽  
Vol 44 (12) ◽  
pp. e317-e318 ◽  
Author(s):  
Shengru Zhou ◽  
Xiaoqing Zhao ◽  
Hongyan Kang ◽  
Renchao Xu ◽  
Yunqiu Yu ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Heterozygous Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

scholarly journals Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband

1998 ◽  
Vol 110 (4) ◽  
pp. 452-455 ◽  
Author(s):  
Jorge Frank ◽  
John McGrath ◽  
HaMut Lam ◽  
Robert M. Graham ◽  
John L.M. Hawk ◽  
...  
Keyword(s):  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

1996 ◽  
Vol 99 (1) ◽  
pp. 126-129 ◽  
Author(s):  
H.-M. Lam ◽  
Laryssa Dragan ◽  
H. C. Tsou ◽  
Hans Merk ◽  
Monica Peacocke ◽  
...  
Keyword(s):  
Molecular Basis ◽  
De Novo ◽  
Insertion Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

scholarly journals Variegate Porphyria: Identification of a Nonsense Mutation in the Protoporphyrinogen Oxidase Gene

1998 ◽  
Vol 110 (4) ◽  
pp. 449-451 ◽  
Author(s):  
Jorge Frank ◽  
Frank K. Jugert ◽  
Katrin Kalka ◽  
Günter Goerz ◽  
Hans F. Merk ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria

2000 ◽  
Vol 33 (6) ◽  
pp. 495-500 ◽  
Author(s):  
Naoto Maeda ◽  
Yutaka Horie ◽  
Yuichiro Sasaki ◽  
Kaori Adachi ◽  
Eiji Nanba ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Novel Mutations ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family

1998 ◽  
Vol 12 (6) ◽  
pp. 403-407 ◽  
Author(s):  
Anne V. Corrigall ◽  
Richard J. Hift ◽  
Valerie Hancock ◽  
Doreen Meissner ◽  
Lester Davids ◽  
...  
Keyword(s):  
South African ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria
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