Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:4.2.1.22 (
cystathionine beta-synthase
)
965
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A simple, rapid, reliable and convenient method was developed to analyze the gene defects in Phenylketonuria (PKU) and Homocystinuria (HCU). In this method, illegitimately transcribed
phenylalanine hydroxylase
(
PAH
) and
cystathionine beta-synthase
(
CBS
) mRNAs in peripheral lymphocytes were used as templates for amplification by RT-PCR. The amplified products were confirmed by restriction enzyme digestions, southern blot hybridizations and sequencing. Point mutations in the protein coding region and splice junction mutations of
PAH
and
CBS
can be analyzed by this method.
...
PMID:Amplification of phenylalanine hydroxylase and cystathionine beta-synthase transcripts in human peripheral lymphocytes by RT-PCR. 971 86
