Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

Hum Mutat. 1996;7(2):172-5. doi: 10.1002/(SICI)1098-1004(1996)7:2<172::AID-HUMU15>3.0.CO;2-#.

Authors

G Perrin¹, M A Morris, S E Antonarakis, E Boltshauser, P Hutter

Affiliation

¹ Cantonal Hospital, Geneva, Switzerland.

PMID: 8829638
DOI: 10.1002/(SICI)1098-1004(1996)7:2<172::AID-HUMU15>3.0.CO;2-#

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Base Sequence
Child
DNA Probes / chemistry
Electrophoresis, Polyacrylamide Gel
Exons / genetics
Female
Genes, Neurofibromatosis 1 / genetics*
Humans
Molecular Sequence Data
Mutation*
Neurofibromatosis 1 / genetics*
Neurofibromin 1
Polymerase Chain Reaction
Proteins / genetics
RNA Splicing / genetics*
RNA, Messenger / genetics
Sequence Analysis

Substances

DNA Probes
Neurofibromin 1
Proteins
RNA, Messenger