Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

Prenatal Diagnosis

Volumn 19, Issue 8, 1999, Pages 739-742

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

^a HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

Neurofibromatosis type 1; Prenatal diagnosis; PTT; Splicing mutation

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; AGAR GEL ELECTROPHORESIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; DNA DETERMINATION; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; NEUROFIBROMATOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS;

ADULT; CHORIONIC VILLI SAMPLING; DNA; FEMALE; FETAL DISEASES; GENES, NEUROFIBROMATOSIS 1; HUMANS; MUTATION; NEUROFIBROMATOSIS 1; PREGNANCY; PREGNANCY TRIMESTER, FIRST; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; TRANS-SPLICING;

EID: 0032820572     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199908)19:8<739::AID-PD626>3.0.CO;2-A     Document Type: Article

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