Fertility defects revealing germline biallelic nonsense NBN mutations

Human Mutation

Volumn 30, Issue 3, 2009, Pages 424-430

  Warcoin, Mathilde ^a,b   Lespinasse, James ^c   Despouy, Gilles ^a,b   D'Enghien, Catherine Dubois ^a   Laugé, Anthony ^a   Portnoï, Marie France ^d,e   Christin Maitre, Sophie ^e,f   Stoppa Lyonnet, Dominique ^a,b,g   Stern, Marc Henri ^a,b  

^a INSTITUT CURIE   (France)

^b INSTITUT CURIE   (France)

^c HÔPITAL DU BOCAGE   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^g LIPADE   (France)

Author keywords

Infertility; NBN; NBS; Nijmegen breakage syndrome; Premature ovarian failure; Repair defect

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DNA SYNTHESIS; FEMALE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; INFERTILITY; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; RADIOSENSITIVITY;

ADULT; BASE SEQUENCE; BLOTTING, WESTERN; CELL CYCLE PROTEINS; CELL LINE, TRANSFORMED; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; INFERTILITY; MALE; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; SIBLINGS;

AVES;

EID: 61649090674     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20904     Document Type: Article

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