PMID- 10090484
OWN - NLM
STAT- MEDLINE
DCOM- 19990713
LR  - 20091119
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 3
DP  - 1999
TI  - Mutation analysis in 46 German families with familial hypercholesterolemia:
      identification of 8 new mutations. Mutations in brief no. 226. Online.
PG  - 257
AB  - In order to obtain a survey of the mutations being prevalent in Northern Germany 
      and to enable molecular genetic testing for families with clinically diagnosed
      familial hypercholesterolemia (FH), we screened 46 unrelated German individuals
      with elevated LDL levels for mutations in the 18 exons and their flanking intron 
      sequences including the promotor region of the LDL receptor (LDLR) gene. In
      addition, we tested all patients for the presence of mutations in the gene coding
      for apolipoprotein B-100 (apoB-100). We detected 15 mutations affecting the LDLR 
      gene, 8 of which, designated A29S, 195insAT, 313+1insG, 553insG,
      680insGGACAAATCTG, D200N, E267K and L411V have not yet been reported. One patient
      is heterozygous for the double mutant N543H and 2393del9Bp. Two patients carried 
      the mutation R3500Q (Arg-->Glu) within the apoB-100 gene.
FAU - Ebhardt, M
AU  - Ebhardt M
AD  - Institut fuer Humangenetik, Medizinische Hochschule Hannover, Germany.
FAU - Schmidt, H
AU  - Schmidt H
FAU - Doerk, T
AU  - Doerk T
FAU - Tietge, U
AU  - Tietge U
FAU - Haas, R
AU  - Haas R
FAU - Manns, M P
AU  - Manns MP
FAU - Schmidtke, J
AU  - Schmidtke J
FAU - Stuhrmann, M
AU  - Stuhrmann 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  - 0 (Apolipoprotein B-100)
RN  - 0 (Apolipoproteins B)
RN  - 0 (Receptors, LDL)
SB  - IM
MH  - Apolipoprotein B-100
MH  - Apolipoproteins B/genetics
MH  - DNA Mutational Analysis
MH  - Frameshift Mutation
MH  - Genetic Testing
MH  - Germany
MH  - Humans
MH  - Hyperlipoproteinemia Type II/*genetics
MH  - *Mutation
MH  - Point Mutation
MH  - Receptors, LDL/genetics
EDAT- 1999/03/25 03:03
MHDA- 2000/06/22 10:00
CRDT- 1999/03/25 03:03
PHST- 1999/03/25 03:03 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/25 03:03 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU14>3.0.CO;2-D [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(3):257. doi:
      10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A.