Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.

Human mutation

Volumn 11, Issue 6, 1998, Pages 482-

  Mallolas, J ^a   Campistol, J ^a   Lambruschini, N ^a   Vilaseca, M A ^a   Cambra, F J ^a   Estivill, X ^a   Mila M ^a  

^a HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; EXON; GENETICS; HUMAN; MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENYLKETONURIA;

DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

MLCS; MLOWN;

EID: 0032241363     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)11:6<482::aid-humu15>3.3.co;2-5     Document Type: Article

References (0)