Jing Guan Hongyang Wang Lan Lan Li Wang Ju Yang Linyi Xie Zifang Yin Wenping Xiong Lidong Zhao Dayong Wang Qiuju Wang
10.1002/ajmg.a.38477
Am J Med Genet A
2018 Jan;176(1):99-106.
pdzd7 biallelic mutation deafness non-syndromic hearing loss
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29048736/
Carrier Proteins / genetics Genes, Recessive Genetic Association Studies Hearing Loss / diagnosis Hearing Loss / genetics Mutation
Carrier Proteins / genetics Genes, Recessive Genetic Association Studies Hearing Loss / diagnosis Hearing Loss / genetics Mutation Case Reports Research Support, Non-U.S. Gov't Amino Acid Sequence Amino Acid Substitution Carrier Proteins / chemistry Computational Biology / methods DNA Mutational Analysis Female Genomics / methods High-Throughput Nucleotide Sequencing Humans Male Models, Molecular Pedigree Protein Conformation Structure-Activity Relationship Carrier Proteins PDZD7 protein, human
PMC5765442
29048736
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss
2018