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Volumn 131, Issue 11, 2011, Pages 2249-2254

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria

(14) Van Tuyll Van Serooskerken, Anne Moniek a,b De Rooij, Felix W c Edixhoven, Annie c Bladergroen, Reno S a,b Baron, Jens M d Joussen, Sylvia d Merk, Hans F d Steijlen, Peter M a,b Poblete Gutiérrez, Pamela a,b Te Velde, Kornelis e Wilson, J H Paul c Koole, Rita H c Van Geel, Michel a,b Frank, Jorge a,b

a MAASTRICHT UNIVERSITY MEDICAL CENTER (Netherlands)

b MAASTRICHT UNIVERSITY (Netherlands)

c ERASMUS MEDICAL CENTER (Netherlands)

d UNIVERSITY HOSPITAL RWTH AACHEN (Germany)

e Department of Internal Medicine (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; COPROPORPHYRINOGEN OXIDASE; DNA; MESSENGER RNA; PORPHOBILINOGEN; PROTOPORPHYRINOGEN OXIDASE;

ADULT; ARTICLE; BLOOD LEVEL; CASE REPORT; COPROPORPHYRIA; DNA DETERMINATION; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; PEDIGREE ANALYSIS; PHOTOSENSITIVITY; PORPHYRIA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; URINARY EXCRETION;

EID: 80054770785 PISSN: 0022202X EISSN: 15231747 Source Type: Journal
DOI: 10.1038/jid.2011.186 Document Type: Article

Times cited : (9)

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