Neurofibromatosis type 1 molecular diagnosis: What can NGS do for you when you have a large gene with loss of function mutations?

European Journal of Human Genetics

Volumn 23, Issue 5, 2015, Pages 596-601

  Pasmant, Eric ^a,b   Parfait, Béatrice ^a,b   Luscan, Armelle ^a,b   Goussard, Philippe ^a   Briand Suleau, Audrey ^a,b   Laurendeau, Ingrid ^b   Fouveaut, Corinne ^a   Leroy, Chrystel ^a   Montadert, Annelore ^a,b   Wolkenstein, Pierre ^c   Vidaud, Michel ^a,b   Vidaud, Dominique ^a,b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; GENE; GENE DELETION; GENE DUPLICATION; GENOTYPE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MOSAICISM; MULTIPLEX POLYMERASE CHAIN REACTION; NEUROFIBROMATOSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; SOMATIC MUTATION; SPRED1 GENE; BIOLOGY; EXON; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NEUROFIBROMATOSIS 1; PROCEDURES; REPRODUCIBILITY; TUMOR SUPPRESSOR GENE;

MEMBRANE PROTEIN; SIGNAL PEPTIDE; SPRED1 PROTEIN, HUMAN;

COMPUTATIONAL BIOLOGY; EXONS; GENE DUPLICATION; GENES, NEUROFIBROMATOSIS 1; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MOSAICISM; MUTATION; NEUROFIBROMATOSIS 1; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; SEQUENCE DELETION;

EID: 84928071342     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.145     Document Type: Article

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