Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Research Abstract Details 

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Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Abstract Text:

AIMS: To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. 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.

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Publishing Authors By Initials

For similar eye diseases: scleral diseases research abstracts see: eye diseases: scleral diseases research

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Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The British journal of ophthalmology

VOLUME: 83

Page Numbers: 680-3

Journal Abbreviation: Br J Ophthalmol

ISSN: 0007-1161

DAY: 28

MONTH: Jun

YEAR: 1999

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Information

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LANGUAGE: eng

NlmUniqueID: 421041

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Keywords Mesh Terms:

KEYWORDS: Scleral Diseases

MESH TERMS: genetics

Chemical & Substance for Abstract: Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Information

Substance Name: Homogentisate 1,2-Dioxygenase

Registry Number: EC 1.13.11.5

Grant and Affiliation Information for Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

AFFILIATION: Augenklinik, Universität Würzburg, Würzburg, Germany.

Country: ENGLAND

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MEDLINETA: Br J Ophthalmol

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