First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Habbal, Mohammad Zouheir ^a   Bou Assi, Tarek ^a   Zhu, Jun ^b   Owen, Renius ^c   Chehab, Farid F ^b  

^a AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE;

1,2 DIOXYGENASE GENE; ALKAPTONURIA; ALPHA HELIX; ARTICLE; BETA SHEET; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; HOMOZYGOSITY; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN TERTIARY STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; CASE REPORT; CHILD; GENETICS; MOLECULAR GENETICS;

ALKAPTONURIA; BASE SEQUENCE; CHILD; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84907211148     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0106948     Document Type: Article

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