Open AccessNovel Mutations Responsible for Autosomal Recessive Multisystem Pseudohypoaldosteronism and Sequence Variants in Epithelial Sodium Channel -, -, and -Subunit Genes
Author(s) -
Aayush Saxena
Publication year - 2002
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.87.7.3344
Subject(s) - frameshift mutation , epithelial sodium channel , genetics , pseudohypoaldosteronism , exon , gene , proband , biology , mutation , stop codon , coding region , silent mutation , microbiology and biotechnology , missense mutation , chemistry , organic chemistry , sodium
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