Phenylketonuria in spanish gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34

Human Mutation

Volumn 9, Issue 1, 1997, Pages 66-68

  Desviat, Lourdes R ^a   Pérez, Belén ^a   Ugarte, Magdalena ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DIAGNOSTIC TEST; ENZYME DEFICIENCY; ETHNIC GROUP; FAMILY STUDY; GENE MUTATION; HUMAN; HUMAN CELL; PHENYLKETONURIA; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; SPAIN;

GYPSIES; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; PHENYLKETONURIAS; SPAIN;

EID: 0031012111     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<66::AID-HUMU13>3.0.CO;2-N     Document Type: Article

References (7)

1. Desviat LR, Pérez B, Ugarte M (1993) Phenylketonuria in Spain: RFLP haplotypes and linked mutations. Hum Genet 92:254-258.
2. Dworniczak B, Aulehla-Scholz C, Kalaydjieva L, Bartholomé K, Grudda K, Horst J (1991) Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of Southern Europe. Genomics 11:242-246.
3. Eisensmith RC, Woo SLC (1992) Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 51:1445-1448.
4. Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC (1992) Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet 51:627-636.
5. Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SLC (1993) A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum Mol Genet 2:577-581.
6. Kalanin J, Takarada Y, Kagawa S, Yamashita K, Ohtsuka N, Matsuoka A (1994) Gypsy Phenylketonuria: A point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia. Am J Med Genet 49:235-239.
7. Kalaydjieva L, Dworniczak B, Kremensky I, Radeva B, Horst J (1993) Population genetics of phenylketonuria in Bulgaria. Dev Brain Dysfunction 6:39-45.