The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Heredity

Volumn 104, Issue 2, 2010, Pages 148-154

  Flanagan, J M ^a,b   McMahon, G ^b   Brendan Chia, S H ^b   Fitzpatrick, P ^b   Tighe, O ^b   O'Neill, C ^a   Briones, P ^c   Gort, L ^c   Kozak, L ^d   Magee, A ^e   Naughten, E ^a   Radomyska, B ^f   Schwartz, M ^g   Shin, J S ^h   Strobl, W M ⁱ   Tyfield, L A ^j   Waterham, H R ^k   Russell, H ^l   Bertorelle, G ^m   Reichardt, J K V ⁿ   Mayne, P D ^a   Croke, D T ^b   more..

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^c Institut de Bioquimica Clinica Barcelona   (Spain)

^d UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^e Northern Ireland Regional Genetics Service   (United Kingdom)

^f INSTITUTE OF MOTHER AND CHILD   (Poland)

^g University of Copenhagen   (Denmark)

^h UNIVERSITY OF MUNICH   (Germany)

ⁱ MEDICAL UNIVERSITY OF VIENNA   (Austria)

^j UNIVERSITY OF BRISTOL   (United Kingdom)

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

^l QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^m UNIVERSITY OF FERRARA   (Italy)

ⁿ UNIVERSITY OF SYDNEY   (Australia)

more..

Author keywords

Duarte 2; Galactosaemia; Haplotype; K285N; Population genetics; Q188R

Indexed keywords

HEXOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ENZYME ACTIVITY; GENE; GENETIC MARKER; GEOGRAPHICAL REGION; HUMAN EVOLUTION; MESOLITHIC; MUTATION; POLYMORPHISM; POPULATION GENETICS;

ARTICLE; CAUCASIAN; ENZYMOLOGY; EUROPE; FEMALE; GALACTOSEMIA; GENE FREQUENCY; GENETICS; HUMAN; MALE; MISSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GALACTOSEMIAS; GENE FREQUENCY; HUMANS; MALE; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

HOMO SAPIENS;

EID: 75549090975     PISSN: 0018067X     EISSN: 13652540     Source Type: Journal    
DOI: 10.1038/hdy.2009.84     Document Type: Article

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