Phenotypic heterogenity of TCF2's gene mutation coding for HNF-1β in a single family;L'hétérogénéité d'expression phénotypique de la mutation du gène TCF2 codant pour HNF-1β illustrée par une famille

Nephrologie et Therapeutique

Volumn 5, Issue 4, 2009, Pages 287-291

  Rigothier, Claire ^a,b   Harambat, Jérôme ^a   Llanas, Brigitte ^a   Subra, Jean François ^c   Combe, Christian ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b INSERM   (France)

^c UNIVERSITÉ D'ANGERS   (France)

Author keywords

Cysts; HNF 1 ; Mody5; Nephrocalcinosis; TCF2; Urogenital dysplasia

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

ADULT; ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; EXON; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENITAL MALFORMATION; HUMAN; HUMAN TISSUE; KIDNEY AGENESIS; KIDNEY CALCIFICATION; KIDNEY CYST; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY HYPOPLASIA; MALE; MODY5 DIABETES; PHENOTYPE; POLYUROPOLYDIPSIC SYNDROME; TCF2 GENE;

ABNORMALITIES, MULTIPLE; ADULT; DIABETES MELLITUS, TYPE 2; EXONS; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; KIDNEY; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 67649865980     PISSN: 17697255     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nephro.2009.02.009     Document Type: Article

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