High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations inHGOInvolving Different Mutational Hot Spots-Reference-Cited by-同舟云学术

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations inHGOInvolving Different Mutational Hot Spots

Published:2000-11 Issue:5 Volume:67 Page:1333-1339
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:Am. J Hum. Genet.

Author:

Zatkova Andrea,de Bernabe Daniel Beltran Valero,Polakova Helena,Zvarik Marek,Ferakova Eva,Bošak Vladimir,Ferak Vladimir,Kadasi L'udovit,de Cordoba Santiago Rodriguez

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for AKU [MIM 203500])

2. Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

3. Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene (HGO)

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