First report of HGD mutations in a Chinese with alkaptonuria

Gene

Volumn 518, Issue 2, 2013, Pages 467-469

  Yang, Yong Jia ^a   Guo, Ji Hong ^b   Chen, Wei Jian ^a   Zhao, Rui ^a   Tang, Jin Song ^c   Meng, Xiao Hua ^d   Zhao, Liu ^a   Tu, Ming ^a   He, Xin Yu ^a   Wu, Ling Qian ^b   Zhu, Yi Min ^a  

^a UNIVERSITY OF SOUTH CHINA   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

^d BGI SHENZHEN   (China)

Author keywords

Alkaptonuria; Chinese population; Homogentisate 1,2 dioxygenase; Mutation

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE;

ALKAPTONURIA; ARTICLE; CASE REPORT; CHINESE; CONTROLLED STUDY; ENZYME CONFORMATION; EXON; FEMALE; GENE MUTATION; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPLICING DEFECT;

ALKAPTONURIA; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; EXONS; FEMALE; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NUCLEIC ACID CONFORMATION; PHENOTYPE;

EID: 84875377583     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.01.020     Document Type: Article

References (11)

1. Aquaron R.R. Alkaptonuria in France: past experience and lessons for the future. J. Inherit. Metab. Dis. 2011, 34:1115-1126.
2. Beltrán-Valero de Bernabé D., et al. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. J. Med. Genet. 1999, 36:922-923.
3. Fernández-Cañón J.M., et al. The molecular basis of alkaptonuria. Nat. Genet. 1996, 4:19-24.
4. Garrod A.E. The incidence of alkaptonuria: a study in chemical individuality-1902. Yale J. Biol. Med. 2002, 75:221-231.
5. Milch R.A. Studies of alcaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am. J. Hum. Genet. 1960, 12:76-85.
6. Phornphutkul C., et al. Natural history of alkaptonuria. N. Engl. J. Med. 2002, 347:2111-2121.
7. Rodríguez J.M., et al. Structural and functional analysis of mutations in alkaptonuria. Hum. Mol. Genet. 2000, 9:2341-2350.
8. Srsen S., et al. Screening for alkaptonuria in the newborn in Slovakia. Lancet 1978, 2:576.
9. Titus G.P., et al. Crystal structure of human homogentisate dioxygenase. Nat. Struct. Biol. 2000, 7:542-546.
10. Wang T.R., Hwu W.L. Alkaptonuria in a Chinese baby. J. Inherit. Metab. Dis. 1989, 12:327.
11. Zatkova A. An update on molecular genetics of alkaptonuria (AKU). J. Inherit. Metab. Dis. 2011, 34:1127-1136.