المؤلفون: Fateen EM; Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: efateen@yahoo.com., El Mawgoud HA; Department of Biochemistry, Faculty of pharmacy (Girls), Al Azhar University, Cairo, Egypt. Electronic address: hananmoawad@gmail.com., Eissa NR; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: nr.eissa@yahoo.com., Ibrahim MM; Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: monamahmoud60@yahoo.com., Aglan MS; Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: drmona_aglan@yahoo.com., Essawi ML; Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: mlessawi@yahoo.com.

المصدر: Gene [Gene] 2017 Feb 05; Vol. 600, pp. 48-54. Date of Electronic Publication: 2016 Nov 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chondroitinsulfatases/*genetics , Mucopolysaccharidosis IV/*enzymology , Mucopolysaccharidosis IV/*genetics, Case-Control Studies ; Child ; Child, Preschool ; Codon, Nonsense ; Consanguinity ; DNA Mutational Analysis ; Egypt ; Female ; Homozygote ; Humans ; Male ; Mucopolysaccharidosis IV/pathology ; Mutation, Missense