scholarly journals A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome

2017 ◽  
Vol 28 (11) ◽  
pp. 3291-3299 ◽  
Author(s):  
Mahdi Salih ◽  
Ivan Gautschi ◽  
Miguel X. van Bemmelen ◽  
Michael Di Benedetto ◽  
Alice S. Brooks ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain ◽  
Liddle Syndrome

scholarly journals A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

2008 ◽  
Vol 173 (4) ◽  
pp. 1113-1119 ◽  
Author(s):  
Eugene A. de Zwart-Storm ◽  
Michel van Geel ◽  
Pierre A.F.A. van Neer ◽  
Peter M. Steijlen ◽  
Patricia E. Martin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain ◽  
Palmoplantar Keratoderma

scholarly journals The C264Y Missense Mutation in the Extracellular Domain of L1 Impairs Protein TraffickingIn VitroandIn Vivo

2003 ◽  
Vol 23 (1) ◽  
pp. 277-286 ◽  
Author(s):  
Annette E. Rünker ◽  
Udo Bartsch ◽  
Klaus-Armin Nave ◽  
Melitta Schachner
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain

A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel

2013 ◽  
Vol 162 (1) ◽  
pp. 166-170 ◽  
Author(s):  
Linggen Gao ◽  
Linping Wang ◽  
Yaxin Liu ◽  
Xianliang Zhou ◽  
Rutai Hui ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Liddle Syndrome ◽  
Py Motif

GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function

1993 ◽  
Vol 4 (3) ◽  
pp. 227-232 ◽  
Author(s):  
Paul Godfrey ◽  
Jason O. Rahal ◽  
Wesley G. Beamer ◽  
Neal G. Copeland ◽  
Nancy A. Jenkins ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Extracellular Domain ◽  
Receptor Function ◽  
Ghrh Receptor

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

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