title: A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: F
authors.initials: F
authors.lastname: Ahmad
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Ansar
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: S
authors.initials: S
authors.lastname: Mehmood
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: A
authors.initials: A
authors.lastname: Izoduwa
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: K
authors.initials: K
authors.lastname: Lee
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: A
authors.initials: A
authors.lastname: Nasir
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Abrar
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: S
authors.initials: S
authors.lastname: Mehmood
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: A
authors.initials: A
authors.lastname: Ullah
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
authors.forename: A
authors.initials: A
authors.lastname: Aziz
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Smith
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: J
authors.initials: J
authors.lastname: Shendure
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Bamshad
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: D A
authors.initials: DA
authors.lastname: Nicekrson
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: R L P
authors.initials: RL
authors.lastname: Santos-Cortez
authors.affiliation: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: S M
authors.initials: SM
authors.lastname: Leal
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.|Pakistan Academy of Sciences (PAS), Islamabad, Pakistan.
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000595:Amino Acid Sequence; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics*; D008049:Lipase / Q000737:chemistry / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010154:Pakistan; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D000217:Acyltransferases; D010740:Phospholipases
chemical_list: D008049:Lipase; C549684:PNPLA1 protein, human; D000217:Acyltransferases; D010740:Phospholipases