Thirty-Nine novel neurofibromatosis 1 (NF1) gene mutations identified in slovak patients

Annals of Human Genetics

Volumn 77, Issue 5, 2013, Pages 364-379

  Nemethova, Martina ^a   Bolcekova, Anna ^b   Ilencikova, Denisa ^b   Durovcikova, Darina ^c   Hlinkova, Katarina ^d   Hlavata, Anna ^b   Kovacs, Laszlo ^b   Kadasi, Ludevit ^a,b   Zatkova, Andrea ^a  

^a INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^b Physics and Informatics   (Slovakia)

^c SLOVAK MEDICAL UNIVERSITY   (Slovakia)

^d CANCER RESEARCH INSTITUTE   (Slovakia)

Author keywords

CDNA based method; Neurofibromatosis 1; NF1; NF1mutations; Slovakia

Indexed keywords

COMPLEMENTARY DNA; NEUROFIBROMIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BONE DISEASE; CAFE AU LAIT SPOT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DNA LIBRARY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC TRANSCRIPTION; GLIOMA; HUMAN; INGUINAL CANAL; IRIS; LENTIGO; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROFIBROMA; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE GLIOMA; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SKIN NODULE; SLOVAKIA; VISUAL SYSTEM;

CDNA BASED METHOD; NEUROFIBROMATOSIS 1; NF1; NF1MUTATIONS; SLOVAKIA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS 1; SLOVAKIA; YOUNG ADULT;

EID: 84893024132     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12026     Document Type: Article

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