Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene

1997 ◽  
Vol 10 (3) ◽  
pp. 196-200 ◽  
Author(s):  
William E. Schreiber ◽  
Xian Zhang ◽  
Janine Senz ◽  
Azim Jamani
Keyword(s):  
Heteroduplex Analysis ◽  
Novel Mutations ◽  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria

A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria

1997 ◽  
Vol 99 (2) ◽  
pp. 199-201 ◽  
Author(s):  
M. Daimon ◽  
Eishirou Gojyou ◽  
Makoto Sugawara ◽  
Keiichi Yamatani ◽  
Makoto Tominaga ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria ◽  
Exon 4

In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria

2001 ◽  
Vol 34 ◽  
pp. 223-224
Author(s):  
R. Rosipal ◽  
E. Malonova ◽  
J. Zeman ◽  
J. Deybach ◽  
J. Lamoril ◽  
...  
Keyword(s):  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria

1995 ◽  
Vol 4 (2) ◽  
pp. 275-278 ◽  
Author(s):  
Jérôme Lamoril ◽  
Pavel Martasek ◽  
Jean-Charles Deybach ◽  
Vasco Da Silva ◽  
Bernard Grandchamp ◽  
...  
Keyword(s):  
Molecular Defect ◽  
Variant Form ◽  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria

Three novel mutations in the coproporphyrinogen oxidase gene

1997 ◽  
Vol 9 (1) ◽  
pp. 78-80 ◽  
Author(s):  
Jérôme Lamoril ◽  
Jean-Charles Deybach ◽  
Hervé Puy ◽  
Bernard Grandchamp ◽  
Yves Nordmann
Keyword(s):  
Novel Mutations ◽  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase

scholarly journals Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene

2013 ◽  
Vol 112 ◽  
pp. 45-50 ◽  
Author(s):  
Masayuki Mori ◽  
Saki Gotoh ◽  
Shigeru Taketani ◽  
Hiroshi Hiai ◽  
Keiichi Higuchi
Keyword(s):  
Oxidase Gene ◽  
Hypomorphic Mutation ◽  
Coproporphyrinogen Oxidase
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