A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2001-2008

  Lindner, Tom H ^a   Njølstad, Pål R ^a,b   Horikawa, Yukio ^a   Bostad, Leif ^b   Bell, Graeme I ^a   Søvik, Oddmund ^b  

^a UNIVERSITY OF CHICAGO   (United States)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; NUCLEAR FACTOR I;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DNA BINDING; FEMALE; GENE DELETION; GENITAL MALFORMATION; HUMAN; INFANT; KIDNEY DISEASE; MALE; NEWBORN; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REPORTER GENE; TRANSCRIPTION INITIATION; UTERUS MALFORMATION; VAGINA APLASIA;

ADOLESCENT; ADULT; CHILD; DIABETES MELLITUS, TYPE 2; DIABETES, GESTATIONAL; DNA; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENITALIA; HELA CELLS; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; KIDNEY DISEASES; KIDNEY DISEASES, CYSTIC; MALE; MIDDLE AGED; POINT MUTATION; PREGNANCY; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT FUSION PROTEINS; RNA SPLICING; SEQUENCE DELETION; SYNDROME; TRANSCRIPTION FACTORS; TRANSFECTION; VAGINA;

EID: 0032836391     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2001     Document Type: Article

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