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

Variegate porphyria: Identification of 10 novel mutations in the protoporphyrinogen oxidase gene

1998 ◽  
Vol 16 ◽  
pp. S226
Author(s):  
Hans F. Merk ◽  
Jorge Frank ◽  
Frank K. Jugert ◽  
Katrin Kalka ◽  
Günter Goerz ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

scholarly journals A Spectrum of Novel Mutations in the Protoporphyrinogen Oxidase Gene in 13 Families with Variegate Porphyria

2001 ◽  
Vol 116 (5) ◽  
pp. 821-823 ◽  
Author(s):  
Jorge Frank ◽  
Frank K. Jugert ◽  
Hans F. Merk ◽  
Katrin Kalka ◽  
Günter Goerz ◽  
...  
Keyword(s):  
Novel Mutations ◽  
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

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
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