Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been
β¦ LIBER β¦
Genotype/phenotype correlations in fibroblasts of patients with pathogenic POLG-mutations
β Scribed by Schoeler, S.; Kudin, A.; Kunz, W.S.
- Book ID
- 122567918
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 57 KB
- Volume
- 1817
- Category
- Article
- ISSN
- 0005-2728
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Genotype-phenotype correlations of KCNJ2
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome
β
Yoshisumi Haruna; Atsushi Kobori; Takeru Makiyama; Hidetada Yoshida; Masaharu Ak
π
Article
π
2007
π
John Wiley and Sons
π
English
β 455 KB
Novel PTEN mutations in patients with Co
β
Nelen, Marcel R; Kremer, Hannie; Konings, Irene BM; Schoute, Frans; Essen, Anton
π
Article
π
1999
π
Nature Publishing Group
π
English
β 216 KB
Phenotype-genotype correlations in patie
β
Ferenci, Peter
π
Article
π
2014
π
John Wiley and Sons
π
English
β 258 KB
Phenotype-genotype correlations in patie
β
Peter Ferenci; Claudia Polli; Cathrin Smolarek; Karel Caca; Hartmuth Schmidt; Ga
π
Article
π
2002
π
Elsevier Science
π
English
β 107 KB
Phenotype-genotype correlations in patie
β
Ezgu, F.; Krejci, P.; Li, S.; de Sousa, C.; Graham, J.M.; Hansmann, I.; He, W.;
π
Article
π
2013
π
John Wiley and Sons
π
English
β 918 KB
SOS1 mutations in Noonan syndrome: molec
β
Francesca Lepri; Alessandro De Luca; Lorenzo Stella; Cesare Rossi; Giuseppina Ba
π
Article
π
2011
π
John Wiley and Sons
π
English
β 588 KB
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others