| | |  | | | | Record from Web of Science® | | | | | | |
| THE HUMAN GENE FOR ALKAPTONURIA (AKU) MAPS TO CHROMOSOME 3Q |
|
|
| Author(s): JANOCHA S, WOLZ W, SRSEN S, SRSNOVA K, MONTAGUTELLI X, GUENET JL, GRIMM T, KRESS W, MULLER CR |
| Source: GENOMICS Volume: 19 Issue: 1 Pages: 5-8 Published: JAN 1 1994 |
| Times Cited: 36 References: 22 |
| Abstract: Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin. (C) 1994 Academic Press, Inc. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV WURZBURG, BIOZENTRUM, DEPT HUMAN GENET, D-97074 WURZBURG, GERMANY
2. COMENIUS UNIV BRATISLAVA, JESSENIUS FAC MED, INST CLIN GENET, 03607 MARTIN VRUTKY, SLOVAKIA
3. INST PASTEUR, UNITE GENET MAMMIFERES, F-75724 PARIS, FRANCE |
| Publisher: ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS, 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 |
| Subject Category: Biotechnology & Applied Microbiology; Genetics & Heredity |
| IDS Number: NA601 |
| ISSN: 0888-7543 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |