Molecular analysis of PKU in Ireland

Acta Pædiatrica

Volumn 83, Issue , 1994, Pages 43-44

  O'Neill, CA ^a   Eisensmith, RC ^a,b   Croke, DT ^c,d   Naughten, ER ^a   Cahalane, SF ^a   Woo, SLC ^a,b  

^a Department of Pathology and Metabolic Unit ^*

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

Author keywords

Ireland; phenylketonuria; R408W; RFLP; VNTR haplotypes

Indexed keywords

ARTICLE; GENE FREQUENCY; GENETICS; HAPLOTYPE; HUMAN; IRELAND; MUTATION; PHENYLKETONURIA; PREVALENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VARIABLE NUMBER OF TANDEM REPEAT; CONFERENCE PAPER; EPIDEMIOLOGY; GENE MUTATION; INCIDENCE; MAJOR CLINICAL STUDY; NEWBORN; PRIORITY JOURNAL;

GENE FREQUENCY; HAPLOTYPES; HUMAN; IRELAND; MINISATELLITE REPEATS; MUTATION; PHENYLKETONURIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREVALENCE; SUPPORT, NON-U.S. GOV'T;

EID: 0028650385     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1994.tb13448.x     Document Type: Article

References (9)

1. Neonatal mass screening for metabolic disorders
2. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria
3. An amino acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2
4. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene
5. Restriction enzyme‐based assays for complete genotyping of phenylketonuria patients
6. Celtic’ phenylketonuria chromosomes found? Evidence in two regions of Quebec province
7. Molecular basis of phenylketonuria in an English population
8. Geographical distribution gradients of the major PKU mutations and the linked haplotypes
9. Population dynamics of phenylketonuria: Independent Celtic and Slavic origins of a prevalent mutation in Europe