PMID- 8076405
OWN - NLM
STAT- MEDLINE
DCOM- 19941004
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 45
IP  - 5
DP  - 1994 May
TI  - Characterization of beta-thalassemia mutations by denaturing gradient gel 
      electrophoresis: patterns in the Mediterranean mutations.
PG  - 221-7
AB  - Of the many methods which have been devised to detect point mutations, we use 
      reverse dot blot for beta-thalassemia in our laboratory. In any mutation 
      detection program, rare or new mutations outside of a laboratory's repertoire 
      will be encountered. Denaturing gradient gel electrophoresis (DGGE) is one of the 
      methods used to localize such mutations. We describe the DGGE electrophoresis 
      pattern of eight common Mediterranean beta-thalassemia mutations and the beta S 
      and beta C mutations, and the definition of two rare mutations outside of these 
      ten. We believe that DGGE is a useful adjunct for mutation detection.
FAU - Dozy, A M
AU  - Dozy AM
AD  - Howard Hughes Medical Institute, University of California, San Francisco 
      94143-0724.
FAU - Kan, Y W
AU  - Kan YW
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 9004-22-2 (Globins)
SB  - IM
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Electrophoresis/methods
MH  - Globins/*genetics
MH  - Humans
MH  - Molecular Sequence Data
MH  - Nucleic Acid Denaturation
MH  - *Point Mutation
MH  - beta-Thalassemia/*genetics
EDAT- 1994/05/01 00:00
MHDA- 1994/05/01 00:01
CRDT- 1994/05/01 00:00
PHST- 1994/05/01 00:00 [pubmed]
PHST- 1994/05/01 00:01 [medline]
PHST- 1994/05/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1994.tb04145.x [doi]
PST - ppublish
SO  - Clin Genet. 1994 May;45(5):221-7. doi: 10.1111/j.1399-0004.1994.tb04145.x.