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Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

par Messiaen, L M;Callens, T;Roux, K J;Mortier, Geert;De Paepe, Anne;Abramowicz, Marc ;Pericak-Vance, M A;Vance, J M;Wallace, M R
Référence Genetics in medicine, 1, 6, page (248-253)
Publication Publié, 1999

Article révisé par les pairs

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Titre:	Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Auteur:	Messiaen, L M; Callens, T; Roux, K J; Mortier, Geert; De Paepe, Anne; Abramowicz, Marc; Pericak-Vance, M A; Vance, J M; Wallace, M R
Informations sur la publication:	Genetics in medicine, 1, 6, page (248-253)
Statut de publication:	Publié, 1999
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Adolescent
	Adult
	Aged
	Aged, 80 and over
	Base Sequence
	Child
	Child, Preschool
	DNA Mutational Analysis
	DNA, Complementary -- metabolism
	Exons
	Female
	Humans
	Male
	Models, Genetic
	Molecular Sequence Data
	Mutation, Missense
	Nerve Tissue Proteins -- genetics
	Neurofibromin 1
	Open Reading Frames
	Polymorphism, Genetic
	Protein Biosynthesis
	RNA Splicing
	Reverse Transcriptase Polymerase Chain Reaction
	Transcription, Genetic
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
	Research Support, U.S. Gov't, Non-P.H.S.
	Research Support, U.S. Gov't, P.H.S.
	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:1098-3600
	info:scp/0033188212
	info:pmid/11258625