Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
Liu, Sanmei
Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. [electronic resource] - International journal of molecular medicine Jun 2016 - 1528-34 p. digital
Publication Type: Case Reports; Journal Article
1791-244X
10.3892/ijmm.2016.2551 doi
AC133 Antigen--genetics
Adult
Case-Control Studies
Exome
Family
Female
Frameshift Mutation
Genes, Recessive
Genetic Association Studies
Genotype
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Leukocytes, Mononuclear--metabolism
Male
Pedigree
Phenotype
Retinitis Pigmentosa--genetics
Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. [electronic resource] - International journal of molecular medicine Jun 2016 - 1528-34 p. digital
Publication Type: Case Reports; Journal Article
1791-244X
10.3892/ijmm.2016.2551 doi
AC133 Antigen--genetics
Adult
Case-Control Studies
Exome
Family
Female
Frameshift Mutation
Genes, Recessive
Genetic Association Studies
Genotype
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Leukocytes, Mononuclear--metabolism
Male
Pedigree
Phenotype
Retinitis Pigmentosa--genetics