Abstract | AIMS: METHODS: A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide primers flanking all 14 exons of the HGO gene. Fragments showing aberrant mobility were directly sequenced. RESULTS: Two homozygous missense mutations, L25P and M368V, were identified, each of which leads to the replacement of a highly conserved amino acid in the HGO protein. CONCLUSIONS: The authors describe a novel mutation, L25P, in the German population and bring to 18 the total number of known HGO mutations.
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Authors | U Felbor, Y Mutsch, F Grehn, C R Müller, W Kress |
Journal | The British journal of ophthalmology
(Br J Ophthalmol)
Vol. 83
Issue 6
Pg. 680-3
(Jun 1999)
ISSN: 0007-1161 [Print] England |
PMID | 10340975
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Oxygenases
- Dioxygenases
- Homogentisate 1,2-Dioxygenase
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Topics |
- Aged
- Amino Acid Substitution
(genetics)
- Conjunctival Diseases
(genetics)
- Corneal Diseases
(genetics)
- Dioxygenases
- Exons
(genetics)
- Female
- Homogentisate 1,2-Dioxygenase
- Humans
- Mutation, Missense
(genetics)
- Ochronosis
(genetics)
- Oxygenases
(genetics)
- Scleral Diseases
(genetics)
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