Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 37-42

  Yuca, Sevil Ari ^a   Rendtorff, Nanna Dahl ^b   Boulahbel, Houda ^c   Lodahl, Marianne ^b   Tranebjærg, Lisbeth ^b,d   Cesur, Yasar ^a   Dogan, Murat ^a   Yilmaz, Cahide ^a   Akgun, Cihangir ^a   Acikgoz, Mehmet ^a  

^a YUZUNCU YIL UNIVERSITY   (Turkey)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d BISPEBJERG HOSPITAL   (Denmark)

Author keywords

Autosomal recessive; Hearing impairment; Inbred; Missense; Mutation; Renal failure; WFS1; Wolfram syndrome

Indexed keywords

CYSTEINE; LEUCINE; PROLINE; THREONINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES INSIPIDUS; DISEASE COURSE; FEASIBILITY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOTE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; KIDNEY FAILURE; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PROTEIN EXPRESSION; SCHOOL CHILD; TURKEY (REPUBLIC); WOLFRAM SYNDROME;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; FEMALE; HEK293 CELLS; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; TURKEY; WOLFRAM SYNDROME; YOUNG ADULT;

EID: 84857190126     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.08.005     Document Type: Article

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