|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.
|
25637936 |
2015 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
|
22211794 |
2012 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
|
15670717 |
2005 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
|
15954111 |
2005 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
The analysis included 20 Spanish and 12 Italian SLOS patients and revealed very different mutation spectra in these patients compared to previously described patients from Czechoslovakia, Germany, Poland, and the UK and implicated p.Thr93Met on the J haplotype as the most frequent Mediterranean founder mutation.
|
15776424 |
2005 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
|
14981719 |
2004 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
|
12949967 |
2003 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
|
11175299 |
2001 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).
|
10995508 |
2000 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).
|
10995508 |
2000 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
|
10602371 |
1999 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
|
9683613 |
1998 |
|
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs80338853
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs80338853
|
|
A |
0.840 |
GeneticVariation |
CLINVAR |
|
|
|