Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

Human Mutation

Volumn 14, Issue 5, 1999, Pages 387-393

  Correa, Catalina López ^a   Brems, Hilde ^a   Lázaro, Conxi ^b   Estivill, Xavier ^b   Clementi, Maurizio ^c   Mason, Silvia ^c   Rutkowski, J Lynn ^d   Marynen, Peter ^a   Legius, Eric ^a,e  

^a University Hospital Gasthuisberg   (Belgium)

^b HOSPITAL DURAN I REYNALS   (Spain)

^c UNIVERSITY OF PADOVA   (Italy)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Contiguous gene syndrome; FISH; Microdeletion; Neurofibromatosis type I; NF1

Indexed keywords

DINUCLEOTIDE; NEUROFIBROMIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DINUCLEOTIDE REPEAT; DNA POLYMORPHISM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; MOLECULAR BIOLOGY; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; DINUCLEOTIDE REPEATS; DNA PRIMERS; EXPRESSED SEQUENCE TAGS; FEMALE; GENE DELETION; GENES, DOMINANT; GENES, NEUROFIBROMATOSIS 1; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NEUROFIBROMATOSIS 1; PARENTS; PHENOTYPE; PHYSICAL CHROMOSOME MAPPING; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE TAGGED SITES;

EID: 0032727412     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4     Document Type: Article

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