WFS1/wolframin mutations, wolfram syndrome, and associated diseases

Human Mutation

Volumn 17, Issue 5, 2001, Pages 357-367

  Khanim, Farhat ^a,b   Kirk, Jeremy ^a   Latif, Farida ^a   Barrett, Timothy G ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Diabetes mellitus; Psychiatric disorders; WFS1; Wolfram syndrome; Wolframin

Indexed keywords

GENE PRODUCT;

AUTOSOMAL RECESSIVE DISORDER; DISEASE ASSOCIATION; GENE FUNCTION; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HETEROZYGOTE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MENTAL DISEASE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; WOLFRAM SYNDROME;

DIABETES MELLITUS, TYPE 1; DNA, MITOCHONDRIAL; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MEMBRANE PROTEINS; MENTAL DISORDERS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; WOLFRAM SYNDROME;

EID: 0035032066     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1110     Document Type: Review

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15. The Vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes Insipidus: Evidence for the involvement of PC2 and 7B2
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