Clinical case seminar: Compound heterozygous mutations in the γ subunit gene of ENaC (1627delG and 1570-1G→A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 1, 2001, Pages 9-12

  Adachi, Masanori ^a   Tachibana, Katsuhiko ^a   Asakura, Yumi ^a   Abe, Syuji ^b   Nakae, Jun ^b   Tajima, Toshihiro ^b   Fujieda, Kenji ^b  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; MESSENGER RNA; PROTEIN SUBUNIT; SODIUM CHANNEL; EPITHELIAL SODIUM CHANNEL; ISOPROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONFERENCE PAPER; EXON; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HORMONE RESISTANCE; HUMAN; HYPERKALEMIA; INTRON; JAPAN; MALE; METABOLIC ACIDOSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SALT LOSING NEPHRITIS; STOP CODON; ARTICLE; ASIAN; CELL LINE; GENETICS; MUTATION;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL LINE; DNA MUTATIONAL ANALYSIS; EPITHELIAL SODIUM CHANNEL; GENE DELETION; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; JAPAN; MALE; MUTATION; PROTEIN ISOFORMS; PSEUDOHYPOALDOSTERONISM; RNA, MESSENGER; SODIUM CHANNELS;

EID: 0035140348     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.1.9     Document Type: Conference Paper

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