Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

European Journal of Human Genetics

Volumn 21, Issue 3, 2013, Pages 347-351

  Haghighi, Amirreza ^a   Haghighi, Alireza ^b   Setoodeh, Aria ^c   Saleh Gohari, Nasrollah ^d   Astuti, Dewi ^e   Barrett, Timothy G ^e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; UNCLASSIFIED DRUG; WFS1 PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DIABETES MELLITUS; GENE SEQUENCE; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; MALE; MALE FERTILITY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PATERNITY TEST; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; WOLFRAM SYNDROME;

ADULT; CHILD, PRESCHOOL; FEMALE; FERTILITY; HOMOZYGOTE; HUMANS; IRAN; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; WOLFRAM SYNDROME;

EID: 84874114988     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.154     Document Type: Article

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