Τίτλος:
Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Δεν υπάρχει περίληψη
Συγγραφείς:
Papadimitriou, D.T.
Manolakos, E.
Bothou, C.
Zoupanos, G.
Papoulidis, I.
Orru, S.
Skarmoutsos, F.
Delides, A.
Bakoula, C.
Papadimitriou, A.
Urano, F.
Περιοδικό:
Diabetes, Obesity and Metabolism
Εκδότης:
Elsevier Masson SAS
Λέξεις-κλειδιά:
desmopressin acetate; protein; unclassified drug; wolframin 1; antidiuretic agent; argipressin[1 deamino]; membrane protein; wolframin protein, abdominal mass; allele; case report; catheterization; child; chromosome 4; diabetes insipidus; disease severity; diuresis; DNA extraction; DNA sequence; drug megadose; exon; female; gene mutation; genetic screening; homozygosity; hospital admission; human; hydronephrosis; insulin dependent diabetes mellitus; Letter; leukocyte; medical history; microsatellite marker; neurogenic bladder; ophthalmologist; otolaryngologist; perception deafness; polydipsia; polymerase chain reaction; polyuria; school child; segregation analysis; start codon; uniparental disomy; urine volume; visual acuity; Wolfram syndrome; chromosome 4; diabetes insipidus; family health; genetics; Hearing Loss, Sensorineural; homozygote; hydronephrosis; mother; mutation; pathophysiology; treatment outcome; uniparental disomy; Urinary Bladder, Neurogenic; Wolfram syndrome, Antidiuretic Agents; Child; Chromosomes, Human, Pair 4; Deamino Arginine Vasopressin; Diabetes Insipidus; Family Health; Female; Hearing Loss, Sensorineural; Homozygote; Humans; Hydronephrosis; Membrane Proteins; Mothers; Mutation; Treatment Outcome; Uniparental Disomy; Urinary Bladder, Neurogenic; Wolfram Syndrome
DOI:
10.1016/j.diabet.2015.06.003
