Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

American Journal of Medical Genetics

Volumn 75, Issue 3, 1998, Pages 265-272

  Bahuau, Michel ^a   Houdayer, Claude ^a   Assouline, Brigitte ^a   Blanchet Bardon, Claudine ^b   Le Merrer, Martine ^c   Lyonnet, Stanislas ^c   Giraud, Sophie ^d   Récan, Dominique ^e   Lakhdar, Hakima ^f   Vidaud, Michel ^a   Vidaud, Dominique ^a,g  

^a FACULTÉ DES SCIENCES PHARMACEUTIQUES ET BIOLOGIQUES   (France)

^b SAINT LOUIS HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

^e Groupe Hospitalier Cochin Port Royal ^*  (France)

^f CHU Averroes   (Morocco)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

CpG dinucleotide; NF1; Nonsense mutation; Noonan syndrome; Phenotypic association; Protein truncation assay

Indexed keywords

ARTICLE; CHROMOSOME 17Q; CONTROLLED STUDY; CPG ISLAND; DINUCLEOTIDE REPEAT; EXON; GENE FREQUENCY; GENE SEGREGATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; NEUROFIBROMATOSIS; NONSENSE MUTATION; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; NEUROFIBROMATOSIS 1; NOONAN SYNDROME; PEDIGREE; PHENOTYPE; POINT MUTATION; SEQUENCE DELETION;

GENETTA;

EID: 0032559320     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980123)75:3<265::AID-AJMG8>3.0.CO;2-P     Document Type: Article

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