000 01504 a2200493 4500
005 20250513061649.0
264 0 _c19940331
008 199403s 0 0 eng d
022 _a0964-6906
024 7 _a10.1093/hmg/2.12.2181
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMeins, M
245 0 0 _aHeterozygous 'null allele' mutation in the human peripherin/RDS gene.
_h[electronic resource]
260 _bHuman molecular genetics
_cDec 1993
300 _a2181-2 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlleles
650 0 4 _aAnimals
650 0 4 _aArginine
650 0 4 _aBase Sequence
650 0 4 _aExons
650 0 4 _aGenetic Carrier Screening
650 0 4 _aHumans
650 0 4 _aIntermediate Filament Proteins
_xgenetics
650 0 4 _aMale
650 0 4 _aMembrane Glycoproteins
650 0 4 _aMice
650 0 4 _aMiddle Aged
650 0 4 _aMutation
650 0 4 _aNerve Tissue Proteins
650 0 4 _aNeuropeptides
_xgenetics
650 0 4 _aPeripherins
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aRetinal Degeneration
_xgenetics
700 1 _aGrĂ¼ning, G
700 1 _aBlankenagel, A
700 1 _aKrastel, H
700 1 _aReck, B
700 1 _aFuchs, S
700 1 _aSchwinger, E
700 1 _aGal, A
773 0 _tHuman molecular genetics
_gvol. 2
_gno. 12
_gp. 2181-2
856 4 0 _uhttps://doi.org/10.1093/hmg/2.12.2181
_zAvailable from publisher's website
999 _c8110712
_d8110712