Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 845-846

  Guldberg, P ^a   Henriksen, K F ^a   Mammen, K C ^b   Levy, H L ^c   Guttler, F ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Kottayam ^*  (India)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE DELETION; GENETIC ANALYSIS; HUMAN; INDIA; PHENYLKETONURIA; POLYMERASE CHAIN REACTION;

CONSANGUINITY; GENE DELETION; HUMANS; INDIA; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION;

EID: 0030728165     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005352725283     Document Type: Article

References (2)

1. Avigad S, Cohen BE, Bauer S, et al (1990) A single origin of phenylketonuria in Yemenite Jews. Nature 344: 168-170.
2. Guldberg P, Levy HL, Hanley WB, et al (1996) Phenylalanine hydroxylase gene mutations in the United States. Report from the Maternal PKU Collaborative Study. Am J Hum Genet 59: 84-94.