Identification of a novel insertion mutation in GATA3 with HDR syndrome

Clinical and Experimental Nephrology

Volumn 9, Issue 1, 2005, Pages 58-61

  Mino, Yukari ^a   Kuwahara, Takashi ^b   Mannami, Toshifumi ^a   Shioji, Keisuke ^a   Ono, Koh ^a   Iwai, Naoharu ^a  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b SAISEIKAI NAKATSU HOSPITAL   (Japan)

Author keywords

Deafness; Hypoparathyroidism; Renal; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR GATA 3;

ADULT; ARTICLE; CASE REPORT; CODON; EXON; FAMILY HISTORY; FEMALE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOTHYROIDISM; KIDNEY DISEASE; PERCEPTION DEAFNESS; SEQUENCE ANALYSIS;

ABNORMALITIES; ADULT; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CODON, NONSENSE; CODON, TERMINATOR; DNA-BINDING PROTEINS; EXONS; FEMALE; GATA3 TRANSCRIPTION FACTOR; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; HYPOPARATHYROIDISM; KIDNEY; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PROTEIN STRUCTURE, TERTIARY; SYNDROME; TRANS-ACTIVATORS; ZINC FINGERS;

EID: 17744381231     PISSN: 13421751     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10157-004-0327-6     Document Type: Article

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