Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

European Journal of Human Genetics

Volumn 13, Issue 12, 2005, Pages 1275-1284

  Hansen, Lars ^a   Eiberg, Hans ^a   Barrett, Timothy ^b   Bek, Toke ^c   Kjærsgaard, Per ^d   Tranebjærg, Lisbeth ^a,e   Rosenberg, Thomas ^f  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d Sønderborg Hospital   (Denmark)

^e BISPEBJERG HOSPITAL   (Denmark)

^f JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Cataract; Mutation; Wolfram syndrome; Wolframin; WSF1

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CHROMOSOME 4P; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DENMARK; DIABETES INSIPIDUS; DISEASE SEVERITY; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JUVENILE DIABETES MELLITUS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DENMARK; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; WOLFRAM SYNDROME;

EID: 30744434434     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201491     Document Type: Article

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