A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

Nature Communications

Volumn 6, Issue , 2015, Pages

  Ameziane, Najim ^a   May, Patrick ^b,c   Haitjema, Anneke ^a   Van De Vrugt, Henri J ^a,d   Van Rossum Fikkert, Sari E ^e,f   Ristic, Dejan ^e,f   Williams, Gareth J ^g   Balk, Jesper ^a   Rockx, Davy ^a   Li, Hong ^c   Rooimans, Martin A ^a   Oostra, Anneke B ^a   Velleuer, Eunike ^h   Dietrich, Ralf ⁱ   Bleijerveld, Onno B ^d   Maarten Altelaar, A F ^d   Meijers Heijboer, Hanne ^a   Joenje, Hans ^a   Glusman, Gustavo ^c   Roach, Jared ^c   Hood, Leroy ^c   Galas, David ^b,j   Wyman, Claire ^e,f   Balling, Rudi ^b   Den Dunnen, Johan ^k   De Winter, Johan P ^a   Kanaar, Roland ^e,f   Gelinas, Richard ^c   Dorsman, Josephine C ^a   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF LUXEMBOURG   (Luxembourg)

^c Institute for Systems Biology   (United States)

^d NETHERLANDS CANCER INSTITUTE   (Netherlands)

^e Cancer Genomics Center   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^h HEINRICH HEINE UNIVERSITY   (Germany)

ⁱ Deutsche Fanconi Anämie Hilfe E V   (Germany)

^j Pacific Northwest Research Institute   (United States)

^k LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALANINE; NUCLEOPROTEIN; RAD51 PROTEIN; THREONINE; DNA BINDING PROTEIN; DNA LIGASE; RAD50 PROTEIN, HUMAN;

ANEMIA; CANCER; CHROMOSOME; DNA; MUTATION;

ADULT; ADULTHOOD; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CANCER SUSCEPTIBILITY; CASE REPORT; CELLULAR DISTRIBUTION; CHROMOSOME BREAKAGE; CONGENITAL MIRROR MOVEMENT DISORDER; DNA BINDING; DNA DAMAGE; DNA RECOMBINATION; DNA REPAIR; ENZYME ACTIVITY; FANCONI ANEMIA; GENETIC ANALYSIS; HETEROZYGOTE; HOMOLOGOUS RECOMBINATION; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; NERVE CELL DIFFERENTIATION; NONHUMAN; PROTEIN EXPRESSION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; ENZYMOLOGY; GENETIC RECOMBINATION; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; YOUNG ADULT;

BASE SEQUENCE; DNA DAMAGE; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FANCONI ANEMIA; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECOMBINATION, GENETIC; YOUNG ADULT;

EID: 84950244546     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms9829     Document Type: Article

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