Diversidade genética das regiões regulatórias e codificantes dos genes SLC45A2 e TYR em amostra da população brasileira

by Fracasso, Nádia Carolina de Aguiar
Published 2014

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

by Laire Schidlowski, Laire Schidlowski, Fernando Liebert, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Yuval Itan, Roberto Rosati, Roberto Rosati, Carolina Prando, Carolina Prando, Carolina Prando
Published 2020-04-01

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

by Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu
Published 2019-07-01

Delineating the genetic heterogeneity of OCA in Hungarian patients

by Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy
Published 2017-06-01

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism

by Nousheen Bibi, Asmat Ullah, Asmat Ullah, Lubna Darwesh, Waqas Khan, Tanzeela Khan, Kalim Ullah, Bushra Khan, Wasim Ahmad, Umm-e-Kalsoom
Published 2020-07-01

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

by Jaworek Thomas J, Kausar Tasleem, Bell Shannon M, Tariq Nabeela, Maqsood Muhammad, Sohail Asma, Ali Muhmmmad, Iqbal Furhan, Rasool Shafqat, Riazuddin Saima, Shaikh Rehan S, Ahmed Zubair M
Published 2012-06-01

Dissecting Phenotypic Variation in Pigmentation using Forward and Reverse Genetics

by Hellström, Anders R
Published 2010

Adult siblings with homozygous <it>G6PC3</it> mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

by Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O
Published 2012-11-01