Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

Human Molecular Genetics

Volumn 10, Issue 22, 2001, Pages 2509-2514

  Young, Terry Lynn ^a   Ives, Elizabeth ^b   Lynch, Eric ^a   Person, Richard ^a   Snook, Stephanie ^a   MacLaren, Linda ^c   Cator, Tracey ^d   Griffin, Anne ^e   Fernandez, Bridget ^b   Lee, Ming K ^a   King, Mary Claire ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^c ALBERTA CHILDREN'S HOSPITAL   (Canada)

^d Hlth Care Corporation of St John's   (Canada)

^e Central Newfoundland Regional Health Center   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; THREONINE;

ADULT; ANALYSIS; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT INHERITANCE; FAMILY; FEMALE; GENE MUTATION; HAPLOTYPE; HEARING LOSS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; JUVENILE DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RAT; RECESSIVE INHERITANCE; WOLFRAM SYNDROME;

ANIMALIA;

EID: 0035888617     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.22.2509     Document Type: Article

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