Documentos relacionados

1. Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
2. Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism.
3. Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.
4. [Study on TYR gene variant from a pedigree with oculocutaneous albinism].
5. TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
6. PMEL is mutated in oculocutaneous albinism.
7. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
8. A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
9. A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
10. [Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].