PMID- 10200057
OWN - NLM
STAT- MEDLINE
DCOM- 19990405
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 6
DP  - 1998
TI  - 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.
PG  - 482
AB  - PKU is one of the commonest genetic disease in man, affecting 1/10,000
      individuals. It presents a wide phenotypical spectrum, from classic PKU to
      moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two
      novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the
      mutational screening of the PAH gene in 84 families. 1163/1164delTC can be
      confused with V388M if the mutational screening is performed with BsaAI
      restriction enzyme, this mutation in heterozigosis presents a moderate phenotype.
      P362T mutation in heterozigosis with V388M shows a classical PKU phenotype. We
      report here two new mutations in exon 11 of the PAH gene (GenBank U49897),
      V1163delTG and P362T (using cDNA sequence), detected during the analysis of 57
      PKU and 36 HPA patients belonging to 84 unrelated families detected under a
      neonatal screening program performed in Catalonia.
FAU - Mallolas, J
AU  - Mallolas J
AD  - Servei de Genetica. Hospital Clinic, Barcelona, Spain.
FAU - Campistol, J
AU  - Campistol J
FAU - Lambruschini, N
AU  - Lambruschini N
FAU - Vilaseca, M A
AU  - Vilaseca MA
FAU - Cambra, F J
AU  - Cambra FJ
FAU - Estivill, X
AU  - Estivill X
FAU - Mila, M
AU  - Mila M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 1.14.16.1 (Phenylalanine Hydroxylase)
SB  - IM
MH  - DNA Mutational Analysis
MH  - Exons/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Mutation/*genetics
MH  - Neonatal Screening
MH  - Phenotype
MH  - Phenylalanine Hydroxylase/*genetics
MH  - Phenylketonurias/*genetics
EDAT- 1999/04/13 02:08
MHDA- 2000/06/22 10:00
CRDT- 1999/04/13 02:08
PHST- 1999/04/13 02:08 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/13 02:08 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU14>3.0.CO;2-H [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(6):482. doi:
      10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E.