Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC
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Abstract
A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.
Bibliographical data
Original language | English |
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ISSN | 0340-6199 |
DOIs | |
Publication status | Published - 07.2007 |
PubMed | 17091258 |
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