Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

Journal of Medical Genetics

Volumn 43, Issue 5, 2006, Pages 435-440

  Eiberg, H ^a   Hansen, L ^a   Kjer, B ^b   Hansen, T ^c   Pedersen, O ^c   Bille, M ^d   Rosenberg, T ^e   Tranebjaerg L ^a,d  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b HILLERØD HOSPITAL   (Denmark)

^c STENO DIABETES CENTER   (Denmark)

^d BISPEBJERG HOSPITAL   (Denmark)

^e JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 30; GLUCOSE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FAMILY STUDY; FEMALE; GENE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GJB2 GENE; HEARING IMPAIRMENT; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPA1 GENE; OPA3 GENE; OPA4 GENE; OPA5 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WFS1 GENE;

ADULT; AGED; BLOOD GLUCOSE; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; OPTIC ATROPHY, AUTOSOMAL DOMINANT;

EID: 33646410654     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.034892     Document Type: Article

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