Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

American Journal of Human Genetics

Volumn 84, Issue 5, 2009, Pages 605-616

  Waltes, Regina ^a   Kalb, Reinhard ^b   Gatei, Magtouf ^c   Kijas, Amanda W ^c   Stumm, Markus ^d   Sobeck, Alexandra ^b   Wieland, Britta ^a   Varon, Raymonda ^e   Lerenthal, Yaniv ^f   Lavin, Martin F ^c,g   Schindler, Detlev ^b   Dörk, Thilo ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

^e HUMBOLDT UNIVERSITY   (Germany)

^f TEL AVIV UNIVERSITY   (Israel)

^g UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; ATM PROTEIN; IMMUNOGLOBULIN; RAD50 PROTEIN;

ADULT; ANAMNESIS; ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CELL CYCLE G1 PHASE; CELL CYCLE G2 PHASE; CELL CYCLE S PHASE; CHILD; CHROMOSOMAL INSTABILITY; DNA DAMAGE; DNA SYNTHESIS; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INFECTION; LYMPHOMA; MENTAL DEFICIENCY; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RAD50 PROTEIN DEFICIENCY; RADIATION; RADIOSENSITIVITY; SECKEL SYNDROME; SHORT STATURE; WILD TYPE;

ATAXIA TELANGIECTASIA; AVES;

EID: 65149095154     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.04.010     Document Type: Article

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