An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 506-514

  Yu, Hung Chun ^a   Sloan, Jennifer L ^b   Scharer, Gunter ^a,c,g   Brebner, Alison ^d   Quintana, Anita M ^a   Achilly, Nathan P ^b   Manoli, Irini ^b   Coughlin II, Curtis R ^a,c   Geiger, Elizabeth A ^a   Schneck, Una ^a   Watkins, David ^d   Suormala, Terttu ^e   Van Hove, Johan L K ^a,c   Fowler, Brian ^e   Baumgartner, Matthias R ^e,f   Rosenblatt, David S ^d   Venditti, Charles P ^b   Shaikh, Tamim H ^a,c  

^a Children's Hospital Colorado   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MESSENGER RNA; RNA; SMALL INTERFERING RNA;

ARTICLE; BINDING SITE; DOWN REGULATION; EXOME; FIBROBLAST; GENE; HCFC1 GENE; HUMAN; HUMAN CELL; HYPERHOMOCYSTEINEMIA; INTRACTABLE EPILEPSY; MALE; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; X CHROMOSOME LINKED DISORDER;

AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; BINDING SITES; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HOST CELL FACTOR C1; HUMANS; HYPERHOMOCYSTEINEMIA; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BINDING; REPRESSOR PROTEINS; RNA, MESSENGER; RNA, SMALL INTERFERING; VITAMIN B 12;

EID: 84883797464     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.07.022     Document Type: Article

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