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Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Blanton, Susan Halloran; Pepper, Michael Sean; Liu, Xue Zhong.
Affiliation
  • Kabahuma RI; Department of Otorhinolaryngology, University of Pretoria, Pretoria 0001, South Africa.
  • Schubert WD; Departments of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria 0001, South Africa.
  • Labuschagne C; Departments of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria 0001, South Africa.
  • Yan D; Inqaba Biotechnical Industries, Pretoria 0002, South Africa.
  • Blanton SH; Department Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Pepper MS; Department Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
  • Liu XZ; Dr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Genes (Basel) ; 12(2)2021 02 15.
Article in En | MEDLINE | ID: mdl-33671976
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Usher Syndromes / Myosin VIIa / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Country/Region as subject: Africa Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country: South Africa Country of publication: Switzerland
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Usher Syndromes / Myosin VIIa / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Country/Region as subject: Africa Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country: South Africa Country of publication: Switzerland