المؤلفون: Vanita V; Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. vanita_kumar@yahoo.com, Singh JR, Singh D, Varon R, Sperling K

المصدر: Molecular vision [Mol Vis] 2008 Jun 17; Vol. 14, pp. 1171-5. Date of Electronic Publication: 2008 Jun 17.

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

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Substitution* , Genetic Predisposition to Disease*, Cataract/*congenital , Cataract/*genetics , Connexins/*genetics , Eye Proteins/*genetics , Mutation/*genetics, Base Sequence ; Child ; DNA Mutational Analysis ; Family ; Female ; Glutamine/genetics ; Humans ; India/ethnology ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Proline/genetics ; United Kingdom

المؤلفون: Vanita V; Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. vanita_kumar@yahoo.com, Singh JR, Singh D, Varon R, Sperling K

المصدر: Molecular vision [Mol Vis] 2008 Feb 09; Vol. 14, pp. 323-6. Date of Electronic Publication: 2008 Feb 09.

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

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Asian People/*genetics , Cataract/*genetics , Connexins/*genetics , Eye Proteins/*genetics , Mutation/*genetics, Child ; DNA Mutational Analysis ; Family ; Female ; Humans ; India ; Lens, Crystalline/pathology ; Male ; Pedigree ; Phenotype

المؤلفون: Vanita V; Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. vanita_kumar@yahoo.com, Hennies HC, Singh D, Nürnberg P, Sperling K, Singh JR

المصدر: Molecular vision [Mol Vis] 2006 Oct 18; Vol. 12, pp. 1217-22. Date of Electronic Publication: 2006 Oct 18.

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

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Dominant* , Mutation*, Asian People/*genetics , Cataract/*congenital , Cataract/*genetics , Connexins/*genetics , Eye Proteins/*genetics, Base Sequence ; Cataract/pathology ; Child ; Cytosine ; DNA Mutational Analysis ; Female ; Genetic Linkage ; Genotype ; Guanine ; Haplotypes ; Heterozygote ; Humans ; India ; Leucine ; Male ; Molecular Sequence Data ; Phenotype ; Protein Structure, Tertiary ; Transcription Initiation Site ; Valine

المؤلفون: Zoll B; Institut für Humangenetik der Universitaet, Goettingen, Germany. bzoll1@gwdg.de, Petersen L, Lange K, Gabriel P, Kiese-Himmel C, Rausch P, Berger J, Pasche B, Meins M, Gross M, Berger R, Kruse E, Kunz J, Sperling K, Laccone F

المصدر: Human mutation [Hum Mutat] 2003 Jan; Vol. 21 (1), pp. 98.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Linkage Disequilibrium* , Point Mutation* , Sequence Deletion*, Connexins/*genetics , Deafness/*genetics, Connexin 26 ; DNA Mutational Analysis ; Deafness/diagnosis ; Gene Frequency ; Genotype ; Germany ; Humans ; Persons With Hearing Impairments ; Phenotype