000 01469 a2200433 4500
005 20250515220825.0
264 0 _c20100503
008 201005s 0 0 eng d
022 _a1538-3601
024 7 _a10.1001/archophthalmol.2010.42
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aCoupry, Isabelle
245 0 0 _aOphthalmological features associated with COL4A1 mutations.
_h[electronic resource]
260 _bArchives of ophthalmology (Chicago, Ill. : 1960)
_cApr 2010
300 _a483-9 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAnterior Eye Segment
_xabnormalities
650 0 4 _aCerebral Ventricles
_xpathology
650 0 4 _aChild
650 0 4 _aCollagen Type IV
_xgenetics
650 0 4 _aEye Abnormalities
_xdiagnosis
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aLeukoencephalopathies
_xdiagnosis
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
650 0 4 _aPedigree
650 0 4 _aPhenotype
700 1 _aSibon, Igor
700 1 _aMortemousque, Bruno
700 1 _aRouanet, François
700 1 _aMine, Manuele
700 1 _aGoizet, Cyril
773 0 _tArchives of ophthalmology (Chicago, Ill. : 1960)
_gvol. 128
_gno. 4
_gp. 483-9
856 4 0 _uhttps://doi.org/10.1001/archophthalmol.2010.42
_zAvailable from publisher's website
999 _c19744916
_d19744916