- ►nih.gov [PDF] - Free from Publisher U Felbor, Y Mutsch, F Grehn, CR Müller, W … - British Journal of Ophthalmology, 1999 - bjo.bmj.com 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 ... Cited by 18 - Related articles - BL Direct - All 8 versions
K Higashino, W Liu, T Ohkawa, T Yamamoto, K … - Clinical genetics, 1998 - ncbi.nlm.nih.gov 1: Clin Genet. 1998 Mar;53(3):228-9. A novel point mutation associated
with alkaptonuria. Higashino K, Liu W, Ohkawa T, Yamamoto ... Cited by 17 - Related articles - BL Direct - All 3 versions
- ►bmj.com [PDF] K Walter, A Gaa, HE Schaefer, A Roers - British Medical Journal, 1999 - jmg.bmj.com E DITOR —Alkaptonuria (AKU) is a disorder of the catabo- lism of aromatic
amino acids. A defect of homogentisate 1,2 dioxygenase (HGO) leads to an
accumulation of homogentisic acid (HGA) and subsequently to deposition of ... Cited by 6 - Related articles - BL Direct - All 5 versions
- ►bmj.com [PDF] B PORFIRIO, I CHIARELLI, C GRAZIANO, … - British Medical Journal, 2000 - jmg.bmj.com Page 1. doi:10.1136/jmg.37.4.309 2000;37;309-312 J. Med. Genet. BELTRÁN-VALERO
DE BERNABÉ and SANTIAGO RODRÍGUEZ DE CÓRDOBA ALESSANDRO ... Cited by 13 - Related articles - BL Direct - All 5 versions
- ►bmj.com [PDF] A Zatkova, H Polakova, L Micutkova, M Zvarik … - British Medical Journal, 2000 - jmg.bmj.com E DITOR —Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is a
common autosomal dominant predisposition to colorectal cancer. Clinical
diagnostic fea- tures of sporadic and HNPCC associated colorectal cancer do ... Cited by 10 - Related articles - BL Direct - All 5 versions
- ►nih.gov [PDF] D Beltran-Valero de Bernabe, FJ Jimenez, R … - The American Journal of Human Genetics, 1999 - Elsevier We recently showed that alkaptonuria (AKU) is caused by loss-of-function
mutations in the homogentisate 1,2 dioxygenase gene (HGO). Herein we describe
haplotype and mutational analyses of HGO in seven new AKU pedigrees. These ... Cited by 15 - Related articles - BL Direct - All 9 versions
A Gehrig, SR Schmidt, CR Müller, S Srsen, K … - Cytogenetic and Genome Research, 1997 - content.karger.com At the dawn of human genetics Sir Archibald Garrod used alkaptonuria as a
paradigm to demonstrate the applicability of the Mendelian laws to men and to
develop the concept of inborn errors of metabolism. The human cDNA for ... Cited by 30 - Related articles - BL Direct - All 5 versions
- ►bmj.com [PDF] DBV de Bernabe, P Peterson, K Luopajarvi, P … - British Medical Journal, 1999 - jmg.bmj.com Page 1. doi:10.1136/jmg.36.12.922 1999;36;922-923 J. Med. Genet. Annamari
Ranki and Matintalo, Antti Alho, Yrjö Konttinen, Kai Krohn ... Cited by 12 - Related articles - All 7 versions
- ►nih.gov [PDF] D Beltran-Valero de Bernabe, B Granadino, I … - The American Journal of Human Genetics, 1998 - Elsevier Alkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine
catabolism, was the first disease to be interpreted as an inborn error of
metabolism. AKU patients are deficient for homogentisate 1,2 dioxygenase ... Cited by 41 - Related articles - BL Direct - All 8 versions
CR Müller, A Fregin, S Srsen, K Srsnova, B … - European journal of human genetics: EJHG, 1999 - ncbi.nlm.nih.gov Defects of the homogentisate 1,2 dioxygenase (HGO; EC No. 1.13.11.5) have been
identified as the molecular cause of alkaptonuria in humans (AKU) and the aku
mouse. Here, we report on the genetic basis of 30 AKU patients from Central ... Cited by 15 - Related articles - BL Direct
