Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency


Autoria(s): Meili D.; Kralovicova J.; Bonafe L.; Flori L.; Blau N.; Vorechovsky B.; Thony B.
Data(s)

2008

Identificador

http://serval.unil.ch/?id=serval:BIB_F942E003FC24

isbn:0141-8955

doi:DOI: 10.1007/s10545-008-9975-0

isiid:000258656400336

Idioma(s)

en

Fonte

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism

Tipo

info:eu-repo/semantics/conferenceObject

inproceedings