Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

Human Molecular Genetics

Volumn 9, Issue 2, 2000, Pages 237-247

  Ars, Elisabet ^a   Serra, Eduard ^a   García, Judit ^a   Kruyer, Helena ^a   Gaona, Antonia ^a   Lázaro, Conxi ^a   Estivill, Xavier ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; NEUROFIBROMIN;

ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING;

ADULT; AGED; CHILD; FEMALE; GENES, NEUROFIBROMATOSIS 1; GENOTYPE; HETERODUPLEX ANALYSIS; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; MUTATION; NEUROFIBROMA, PLEXIFORM; NEUROFIBROMATOSIS 1; OPTIC NERVE GLIOMA; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING;

EID: 0033966774     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.2.237     Document Type: Article

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