المؤلفون: Bidchol AM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India., Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Nov; Vol. 164A (11), pp. 2793-801. Date of Electronic Publication: 2014 Sep 22.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chondroitinsulfatases/*genetics , Mucopolysaccharidosis IV/*genetics , White People/*genetics, Adolescent ; Adult ; Alleles ; Amino Acid Substitution ; Child ; Child, Preschool ; Chondroitinsulfatases/metabolism ; Computational Biology ; DNA Mutational Analysis ; Enzyme Activation ; Female ; Gene Frequency ; Gene Order ; Humans ; India ; Infant ; Male ; Mucopolysaccharidosis IV/diagnosis ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Young Adult