Persistence of the common Hartnup disease D173N allele in populations of European origin

Annals of Human Genetics

Volumn 71, Issue 6, 2007, Pages 755-761

  Azmanov, Dimitar N ^a,b   Rodgers, Helen ^a   Auray Blais, Christiane ^c   Giguère, Robert ^c   Bailey, Charles ^d   Bröer, Stefan ^e   Rasko, John E J ^d,f   Cavanaugh, Juleen A ^a  

^a The Australian National University   (Australia)

^b Biology and Environment   (Australia)

^c UNIVERSITÉ DE SHERBROOKE   (Canada)

^d CENTENARY INSTITUTE   (Australia)

^e AUSTRALIAN NATIONAL UNIVERSITY   (Australia)

^f ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Aminoaciduria; D173N; Evolution; Hartnup; SLC6A19

Indexed keywords

AMINO ACID; CARRIER PROTEIN; PROTEIN SLC6A19; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMINO ACID TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CONTROLLED STUDY; EUROPE; GENE FREQUENCY; GENE FUNCTION; GENE LOCUS; GENETIC ASSOCIATION; GENOME SIZE; GEOGRAPHIC ORIGIN; HAPLOTYPE; HARTNUP DISEASE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; PATHOGENESIS; PENETRANCE; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL; VARIABLE NUMBER OF TANDEM REPEAT;

ALLELES; AMINO ACID SUBSTITUTION; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHROMOSOMES, HUMAN, PAIR 5; EUROPEAN CONTINENTAL ANCESTRY GROUP; EVOLUTION, MOLECULAR; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HARTNUP DISEASE; HUMANS; MALE; MICROSATELLITE REPEATS; MINISATELLITE REPEATS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TIME FACTORS;

EID: 34948819167     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2007.00375.x     Document Type: Article

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