Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence

Annals of Human Genetics

Volumn 78, Issue 3, 2014, Pages 155-164

  Sakthivel, Srinivasan ^a   Zatkova, Andrea ^b   Nemethova, Martina ^b   Surovy, Milan ^c   Kadasi, Ludevit ^b,c   Saravanan, Madurai P ^d  

^a BHARATHIDASAN UNIVERSITY   (India)

^b INSTITUTE OF CHEMISTRY   (Slovakia)

^c Faculty of Natural Sciences   (Slovakia)

^d KAP Viswanathan Medical College   (India)

Author keywords

Alkaptonuria; Founder effect; High prevalence; Novel mutation; Rare genetic disorder

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE;

ADOLESCENT; ADULT; AGED; ALKAPTONURIA; ARTICLE; AUTOSOMAL INHERITANCE; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; EXON; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INTRON; MALE; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING TEST; EPIDEMIOLOGY; ETHNIC GROUP; GENETICS; INDIA; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; RECESSIVE GENE; THIN LAYER CHROMATOGRAPHY; URINALYSIS;

ALKAPTONURIA; BASE SEQUENCE; CHROMATOGRAPHY, THIN LAYER; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC TESTING; HOMOGENTISATE 1,2-DIOXYGENASE; HUMANS; INDIA; MOLECULAR SEQUENCE DATA; MUTATION; PREVALENCE; URINALYSIS;

EID: 84897960118     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12055     Document Type: Article

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