Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel α-, β-, and γ-subunit genes

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 7, 2002, Pages 3344-3350

  Saxena, Anjana ^a,b   Hanukoglu, Israel ^a,b   Saxena, Deepak ^a,b   Thompson, Richard J ^a,b   Mark Gardiner, R ^a,b   Hanukoglu, Aaron ^a,b  

^a ARIEL UNIVERSITY   (Israel)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; BICARBONATE; DNA; FLUDROCORTISONE; MESSENGER RNA; POTASSIUM ION; SODIUM CHANNEL; SODIUM CHLORIDE; SODIUM ION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEHYDRATION; EPITHELIUM CELL; ETHNIC GROUP; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYPONATREMIA; INDIA; INFANT; INTRON; IRAN; MALE; NUCLEOTIDE SEQUENCE; PAKISTAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; RNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; UNITED KINGDOM;

INSERTION SEQUENCES; IRANIA;

EID: 0036319763     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.7.8674     Document Type: Article

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