Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

New England Journal of Medicine

Volumn 356, Issue 8, 2007, Pages 809-819

  Hinson, J Travis ^a,b   Fantin, Valeria R ^a   Schönberger, Jost ^a,b,c,d   Breivik, Noralv ^e   Siem, Geir ^e   McDonough, Barbara ^a   Sharma, Pankaj ^f   Keogh, Ivan ^a,g   Godinho, Ricardo ^h   Santos, Felipe ⁱ   Esparza, Alfonso ^a,g   Nicolau, Yamileth ^a,g   Selvaag, Edgar ^j   Cohen, Bruce H ^k   Hoppel, Charles L ^l   Tranebjærg, Lisbeth ^j,m,n   Eavey, Roland D ^a,g   Seidman, J G ^a,b   Seidman, Christine E ^a,b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^d Institute of Clinical Biochemistry and Pathobiochemistry   (Germany)

^e Aalesund Hospital   (Norway)

^f HAMMERSMITH HOSPITAL   (United Kingdom)

^g MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^h PONTIFICAL CATHOLIC UNIVERSITY OF MINAS GERAIS   (Brazil)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

^j BISPEBJERG HOSPITAL   (Denmark)

^k LERNER RESEARCH INSTITUTE   (United States)

^l LOUIS STOKES CLEVELAND VA MEDICAL CENTER   (United States)

^m UNIVERSITY OF COPENHAGEN   (Denmark)

ⁿ UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; REACTIVE OXYGEN METABOLITE; UBIQUINOL CYTOCHROME C REDUCTASE;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BCS1L GENE; BJOERNSTAD SYNDROME; CHROMOSOME 2Q; COMPLEX III DEFICIENCY; CONTROLLED STUDY; CRYSTAL STRUCTURE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ELECTRON TRANSPORT; ENZYME STRUCTURE; FEMALE; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MITOCHONDRION; MOUSE; NONHUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

EID: 33847153121     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa055262     Document Type: Article

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