000 01606 a2200469 4500
005 20250514160332.0
264 0 _c20040618
008 200406s 0 0 eng d
022 _a1552-4825
024 7 _a10.1002/ajmg.a.20498
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPramparo, Tiziano
245 0 0 _aReciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cNov 2003
300 _a79-83 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aChromosome Banding
650 0 4 _aChromosomes, Human, Pair 8
650 0 4 _aExostoses, Multiple Hereditary
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfertility
650 0 4 _aKaryotyping
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aN-Acetylglucosaminyltransferases
_xgenetics
650 0 4 _aPedigree
650 0 4 _aTranslocation, Genetic
650 0 4 _aExostosin 1
700 1 _aGregato, Giuliana
700 1 _aDe Gregori, Manuela
700 1 _aFriso, Alessandra
700 1 _aClementi, Maurizio
700 1 _aArdenghi, Patrizia
700 1 _aRocchi, Mariano
700 1 _aZuffardi, Orsetta
700 1 _aTenconi, Romano
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 123A
_gno. 1
_gp. 79-83
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.20498
_zAvailable from publisher's website
999 _c14299560
_d14299560