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Authors :
Zhang A; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, Georgia, USA.
Subjects: Cleft Lip/Cleft Lip/Cleft Lip/*enzymology ; Cleft Lip/Cleft Lip/Cleft Lip/*genetics ; Cornea/Cornea/Cornea/*abnormalities Krause-Kivlin syndrome
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Source:
The Journal of biological chemistry [J Biol Chem] 2021 Jul; Vol. 297 (1), pp. 100843. Date of Electronic Publication: 2021 May 28.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication
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Authors :
Mihalic Mosher T; Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, 43205, USA. .; Department of Pediatrics, The Ohio State University, Columbus, OH, 43205, USA. .
Subjects: Mutation* ; Phenotype*; Galactosyltransferases/Galactosyltransferases/Galactosyltransferases/*genetics
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Source:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Oct; Vol. 27 (10), pp. 1569-1577. Date of Electronic Publication: 2019 Jul 05.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Van Damme T; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Pang X
Subjects: Mutation* ; Phenotype* ; Exome Sequencing*
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Source:
Human molecular genetics [Hum Mol Genet] 2018 Oct 15; Vol. 27 (20), pp. 3475-3487.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:
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Authors :
Wang YE; Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St, Miami, FL, 33136, USA.; Harvard Eye Associates, Laguna Hills, CA, 92653, USA.
Subjects: Choroid Diseases/Choroid Diseases/Choroid Diseases/*genetics ; Cleft Lip/Cleft Lip/Cleft Lip/*genetics ; Cornea/Cornea/Cornea/*abnormalities Krause-Kivlin syndrome
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Source:
BMC ophthalmology [BMC Ophthalmol] 2020 Mar 23; Vol. 20 (1), pp. 118. Date of Electronic Publication: 2020 Mar 23.Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415
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Authors :
Bobovská A; Slovak Academy of Sciences, Institute of Chemistry, Center for Glycomics, Bratislava 845 38, Slovakia Faculty of Natural Sciences, Department of Physical and Theoretical Chemistry, Comenius University, Bratislava 4 842 15, Slovakia.; Tvaroška I
Subjects: Models, Chemical* ; Mutation*; Cysteine/Cysteine/Cysteine/*chemistry
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Source:
Glycobiology [Glycobiology] 2015 Jan; Vol. 25 (1), pp. 3-7. Date of Electronic Publication: 2014 Aug 18.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9104124 Publication Model: Print-Electronic Cited Medium:
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Authors :
Ben Mahmoud A; Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia. Electronic address: .; Siala O
Subjects: Mutation* ; RNA Splicing*; Cleft Lip/Cleft Lip/Cleft Lip/*genetics Krause-Kivlin syndrome
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Source:
Gene [Gene] 2013 Dec 10; Vol. 532 (1), pp. 13-7. Date of Electronic Publication: 2013 Aug 14.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet
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