A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome [2]

Journal of Endocrinological Investigation

Volumn 29, Issue 9, 2006, Pages 851-853

  Kobayashi, H ^a   Kasahara, M ^a   Hino, M ^a   Yoshimura, H ^a   Takahara, S ^a   Ikeda, K ^a   Son, C ^a   Iwakura, T ^a   Yoshimoto, A ^a   Ishihara, T ^a   Ogawa, Y ^b  

^a KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; TRANSCRIPTION FACTOR GATA 3; ZINC FINGER PROTEIN;

ADULT; AUDIOGRAPHY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOSITY; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM SENSORINEURAL DEAFNESS AND RENAL DYSPLASIA; JAPAN; KIDNEY SCINTISCANNING; LABORATORY DIAGNOSIS; LETTER; MALE; PHENOTYPIC VARIATION; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

EID: 33845325332     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03347383     Document Type: Letter

References (13)

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