scholarly journals Clinical and genetic analysis of multi-system pseudohypoaldosteronism type 1 caused by a novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC)

2021 ◽  
Author(s):  
Sicui Hu ◽  
hongxiu yang ◽  
cheng Li ◽  
qiannan jiang ◽  
lingyan qiao ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Splice Site Mutation ◽  
Beta Subunit ◽  
Subunit Gene ◽  
Site Mutation ◽  
Comprehensive Review ◽  
Beta Subunit Gene ◽  
Epithelial Sodium Channel Enac ◽  
Pseudohypoaldosteronism Type

This article aims to provide a comprehensive review of the clinical features and genetics basis of multi-system pseudohypoaldosteronism type 1 caused by SCNN1B gene mutations.

scholarly journals Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene

2009 ◽  
Vol 10 (1) ◽  
Author(s):  
Kyoko Kanda ◽  
Kandai Nozu ◽  
Naoki Yokoyama ◽  
Ichiro Morioka ◽  
Akihiro Miwa ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Pseudohypoaldosteronism Type

Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes

2005 ◽  
Vol 83 (2) ◽  
pp. 466-470 ◽  
Author(s):  
Karina Berger ◽  
Haroldo Souza ◽  
Vinicius Nahime Brito ◽  
Catarina Brasil d'Alva ◽  
Berenice Bilharinho Mendonca ◽  
...  
Keyword(s):  
Follicle Stimulating Hormone ◽  
Gene Mutations ◽  
Beta Subunit ◽  
Subunit Gene ◽  
Beta Subunit Gene ◽  
Stimulating Hormone

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals AP-1 antagonizes thyroid hormone receptor action on the thyrotropin beta-subunit gene.

1993 ◽  
Vol 268 (4) ◽  
pp. 2749-2754
Author(s):  
F.E. Wondisford ◽  
H.J. Steinfelder ◽  
M. Nations ◽  
S. Radovick
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Beta Subunit ◽  
Subunit Gene ◽  
Receptor Action ◽  
Beta Subunit Gene
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