000 01750 a2200517 4500
005 20250514211952.0
264 0 _c20060227
008 200602s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.20115
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDisset, Antoine
245 0 0 _aA T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).
_h[electronic resource]
260 _bHuman mutation
_cJan 2005
300 _a72-81 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAlleles
650 0 4 _aAlternative Splicing
650 0 4 _aCaco-2 Cells
650 0 4 _aCell Line
650 0 4 _aCystic Fibrosis
_xgenetics
650 0 4 _aCystic Fibrosis Transmembrane Conductance Regulator
_xgenetics
650 0 4 _aDNA
_xmetabolism
650 0 4 _aDNA-Binding Proteins
_xmetabolism
650 0 4 _aEpididymis
650 0 4 _aExons
650 0 4 _aHeLa Cells
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aOligospermia
_xgenetics
650 0 4 _aProtein Binding
650 0 4 _aRepetitive Sequences, Nucleic Acid
650 0 4 _aThymidine
_xanalysis
650 0 4 _aTranscription, Genetic
650 0 4 _aTransfection
650 0 4 _aVas Deferens
_xabnormalities
700 1 _aMichot, Carine
700 1 _aHarris, Ann
700 1 _aBuratti, Emanuele
700 1 _aClaustres, Mireille
700 1 _aTuffery-Giraud, Sylvie
773 0 _tHuman mutation
_gvol. 25
_gno. 1
_gp. 72-81
856 4 0 _uhttps://doi.org/10.1002/humu.20115
_zAvailable from publisher's website
999 _c15265389
_d15265389