Associated Papers
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s002.xlsx › Supplementary_Table_2
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Hereditary nonpolyposis coloretal cancer: identification of novel germline mutations in two kindreds not fulfulling the Amsterdam criteria. Mutations in brief no. 203. Online.
Quaresima B et al.
Human Mutation, 1998
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
Karsten SL et al.
Human Mutation, 1998
Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.
Oetting WS et al.
Human Mutation, 1998
Select a paper to view details