UPSpace Home
→
Natural and Agricultural Sciences
→
Genetics
→
Browsing Genetics by Author

Browsing Genetics by Author "Yan, Denise"

Now showing items 1-1 of 1

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 (MDPI, 2021-02-15)

MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 ...

Now showing items 1-1 of 1

Search UPSpace

Browse

All of UPSpace
This Community
- Issue Date
- Authors
- Titles
- Subjects
- Supervisor
- UP Author
- UP Postgraduate
- Type

My Account

UPSpace Workspace