Jun-Yu Zhang Song-Chang Chen Yi-Yao Chen Shu-Yuan Li Lan-Lan Zhang Ying-Hua Shen Chun-Xin Chang Yu-Qian Xiang He-Feng Huang Chen-Ming Xu
10.1371/journal.pone.0172173
PLoS One
2017 Feb 23;12(2):e0172173.
CC BY
https://pubmed.ncbi.nlm.nih.gov/28231257/
Frameshift Mutation Lymphoproliferative Disorders / genetics Signaling Lymphocytic Activation Molecule Associated Protein / genetics
Frameshift Mutation Lymphoproliferative Disorders / genetics Signaling Lymphocytic Activation Molecule Associated Protein / genetics Case Reports Adult Female Genetic Testing High-Throughput Nucleotide Sequencing Humans Male Mutation Nonsense Mediated mRNA Decay Pedigree Pregnancy Prenatal Diagnosis RNA, Messenger / genetics RNA, Messenger SH2D1A protein, human Signaling Lymphocytic Activation Molecule Associated Protein
PMC5322879
28231257
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing
2017