First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Open Access

Peer-reviewed

Research Article

Mohammad Zouheir Habbal,

Affiliation Department of Pathology and Laboratory Medicine, American University of Beirut, Beirut, Lebanon
⨯
Tarek Bou-Assi,

Affiliation Department of Pathology and Laboratory Medicine, American University of Beirut, Beirut, Lebanon
⨯
Jun Zhu,

Affiliation Department of Laboratory Medicine, University of California San Francisco, San Francisco, California, United States of America
⨯
Renius Owen,

Affiliation Quest Diagnostics, Nichols Institute, San Juan Capistrano, California, United States of America
⨯
Farid F. Chehab

* E-mail: chehabf@labmed2.ucsf.edu

Affiliation Department of Laboratory Medicine, University of California San Francisco, San Francisco, California, United States of America
⨯

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Crystal structure
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Polymerase chain reaction
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Protein structure
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Protein structure prediction
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Deletion mutation
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Homozygosity
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Insertion mutation
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Single nucleotide polymorphisms
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