Twelve novel HGD gene variants identified in 99 alkaptonuria patients: Focus on 'black bone disease' in Italy

European Journal of Human Genetics

Volumn 24, Issue 1, 2016, Pages 66-72

  Nemethova, Martina ^a   Radvanszky, Jan ^a   Kadasi, Ludevit ^a,b   Ascher, David B ^c   Pires, Douglas E V ^c   Blundell, Tom L ^c   Porfirio, Berardino ^d   Mannoni, Alessandro ^e   Santucci, Annalisa ^f   Milucci, Lia ^f   Sestini, Silvia ^g   Biolcati, Gianfranco ^h   Sorge, Fiammetta ^h   Aurizi, Caterina ^h   Aquaron, Robert ⁱ   Alsbou, Mohammed ^j   Lourenço, Charles Marques ^k   Ramadevi, Kanakasabapathi ^l   Ranganath, Lakshminarayan R ^m   Gallagher, James A ⁿ   Van Kan, Christa ^o   Hall, Anthony K ^p   Olsson, Birgitta ^q   Sireau, Nicolas ^r   Ayoob, Hana ^r   Timmis, Oliver G ^r   Le Quan Sang, Kim Hanh ^s   Genovese, Federica ^t   Imrich, Richard ^u   Rovensky, Jozef ^u   Srinivasaraghavan, Rangan ^v   Bharadwaj, Shruthi K ^v   Spiegel, Ronen ^w   Zatkova, Andrea ^a   more..

^a INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^b Physics and Informatics   (Slovakia)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF FLORENCE   (Italy)

^e Rheumatology Unit   (Italy)

^f UNIVERSITY OF SIENA   (Italy)

^g Associazione Italiana Malati di Alcaptonuria   (Italy)

^h SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

ⁱ AIX MARSEILLE UNIVERSITY   (France)

^j MUTAH UNIVERSITY   (Jordan)

^k UNIVERSITY OF SÃO PAULO   (Brazil)

^l MADRAS MEDICAL COLLEGE   (India)

^m ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF LIVERPOOL   (United Kingdom)

^o PSR group BV   (Netherlands)

^p Cudos BV   (Netherlands)

^q BIOVITRUM AB   (Sweden)

^r AKU Society   (United Kingdom)

^s UNIVERSITÉ PARIS DESCARTES   (France)

^t NORDIC BIOSCIENCE A S   (Denmark)

^u NATIONAL INSTITUTE OF RHEUMATIC DISEASES   (Slovakia)

^v JAWAHARLAL INSTITUTE OF POSTGRADUATE MEDICAL EDUCATION AND RESEARCH   (India)

^w HAEMEK MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE; PHENYLALANINE; TYROSINE;

ALKAPTONURIA; ARTICLE; BRAZIL; DNA DETERMINATION; ENZYME ACTIVITY; FRANCE; GENE; GENE MUTATION; GENETIC DATABASE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HGD GENE; HUMAN; INDIA; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; SLOVAKIA; BONE; BONE DISEASES, METABOLIC; CHEMISTRY; DNA SEQUENCE; ENZYME ACTIVE SITE; ENZYMOLOGY; EXON; FEMALE; GENE EXPRESSION; GENETICS; INTRON; MALE; MOLECULAR GENETICS; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; PROTEIN SECONDARY STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALKAPTONURIA; BASE SEQUENCE; BONE AND BONES; BONE DISEASES, METABOLIC; CATALYTIC DOMAIN; DATABASES, GENETIC; EXONS; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; INTRONS; ITALY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; SEQUENCE ANALYSIS, DNA;

EID: 84951573472     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.60     Document Type: Article

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