Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations

Molecular Vision

Volumn 14, Issue , 2008, Pages 1353-1357

  Zenteno, Juan Carlos ^a,b   Ruiz, Gabriela ^c   Pérez Cano, Hector J ^a   Camargo, Mayra ^c  

^a Conde de Valenciana ^*  (Mexico)

^b Research Unit   (Mexico)

^c Institute of Ophthalmology   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCOPROTEIN; WOLFRAMIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 4P; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE SEVERITY; DNA ISOLATION; ETHNIC GROUP; EXON; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEARING LOSS; HETEROZYGOSITY; HISPANIC; HUMAN; HUMAN CELL; INHERITANCE; INTRON; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MOLECULAR CLONING; MOLECULAR MECHANICS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PARENT; PATHOGENESIS; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; VISUAL ACUITY; VISUAL SYSTEM EXAMINATION; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 4; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC MARKERS; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; WOLFRAM SYNDROME;

EID: 48249119938     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

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