title: Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
authors.affiliation: Department of Biology and Institute of Basic Sciences, Sungshin Women's University, Seoul, Republic of Korea.
authors.forename: Eunji
authors.initials: E
authors.lastname: Lee
authors.affiliation: Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
authors.forename: Obaid Ur
authors.initials: OU
authors.lastname: Rahman
authors.affiliation: Haemtology Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
authors.forename: Muhammad Tariq Masood
authors.initials: MT
authors.lastname: Khan
authors.affiliation: Deptment of Biochemistry, Abdul Wali Khan University, Mardan, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Abdul
authors.initials: A
authors.lastname: Wadood
authors.affiliation: Medical Genetics Research Lab, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Naeem
authors.affiliation: Department of Biology and Institute of Basic Sciences, Sungshin Women's University, Seoul, Republic of Korea. Electronic address: ckang@sungshin.ac.kr.
authors.forename: Changsoo
authors.initials: C
authors.lastname: Kang
authors.affiliation: Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan. Electronic address: mjelani@kau.edu.sa.
authors.forename: Musharraf
authors.initials: M
authors.lastname: Jelani
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D059472:Exome; D005808:Genes, Recessive; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008049:Lipase / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology*; D000217:Acyltransferases; D010740:Phospholipases
chemical_list: D018389:Codon, Nonsense; D008049:Lipase; C549684:PNPLA1 protein, human; D000217:Acyltransferases; D010740:Phospholipases