Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

Background: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious genetic and phenotypic heterogeneity. Molecular diagnosis of causal genes can be of help in the classification of OCA...

Full description

Bibliographic Details
Main Authors:	Li, H. (Author), Mao, Y. (Author), Tang, S. (Author), Xiang, Y. (Author), Xu, C. (Author), Xu, X. (Author), Xu, Y. (Author), Zhou, L. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	adolescent Adolescent adult Adult Albinism, Oculocutaneous amniocentesis Amniocentesis Article Asian continental ancestry group Asian Continental Ancestry Group carrier protein child Child Chinese clinical article controlled study exon female Female follow up gene gene identification genetic analysis genetic counseling Genetic Counseling genetic variability genetics HPS1 HPS1 gene HPS1 protein, human human Humans Infant, Newborn male Male membrane protein Membrane Proteins Membrane Transport Proteins middle aged Middle Aged monophenol monooxygenase Monophenol Monooxygenase newborn Noninvasive Prenatal Testing OCA OCA2 gene OCA2 protein, human oculocutaneous albinism pathogenesis pedigree Pedigree phenotype polymerase chain reaction pregnancy Pregnancy prenatal diagnosis procedures Sanger sequencing school child short tandem repeat TYR TYR gene whole exome sequencing Whole Exome Sequencing
Online Access:	View Fulltext in Publisher

Internet

View Fulltext in Publisher

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

Internet

Similar Items