Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1467-1473

  Bottillo, Irene ^a   Torrente, Isabella ^a   Lanari, Valentina ^a   Pinna, Valentina ^a   Giustini, Sandra ^a   Divona, Luigina ^b   De Luca, Alessandro ^a   Dallapiccola, Bruno ^c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Germline mosaicism; Neurofibromatosis type 1 (NF1); Real time PCR

Indexed keywords

ADULT; ALLELE; ARTICLE; CHROMOSOME 17; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HUMAN; MALE; MOSAICISM; NEUROFIBROMATOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RECURRENT DISEASE;

ALLELES; EXONS; FATHERS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PEDIGREE; RECURRENCE; SEQUENCE DELETION;

EID: 77952772805     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33386     Document Type: Article

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