title: Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy.
authors.affiliation: Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India. renu2006@gmail.com
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D003286:Contracture / Q000235:genetics / Q000151:congenital; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007194:India; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases / Q000235:genetics*; D012868:Skin Abnormalities / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human