000 01696 a2200481 4500
005 20250513073137.0
264 0 _c19930901
008 199309s 0 0 eng d
022 _a0300-8207
024 7 _a10.3109/03008209309061961
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWirtz, M K
245 0 0 _aA cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
_h[electronic resource]
260 _bConnective tissue research
_c1993
300 _a1-11 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAmino Acid Sequence
650 0 4 _aBase Sequence
650 0 4 _aChromatography, High Pressure Liquid
650 0 4 _aCollagen
_xchemistry
650 0 4 _aCysteine
_xanalysis
650 0 4 _aDNA
_xgenetics
650 0 4 _aFemale
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aGlycine
_xanalysis
650 0 4 _aHumans
650 0 4 _aMiddle Aged
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
_xgenetics
650 0 4 _aOsteogenesis Imperfecta
_xgenetics
650 0 4 _aPhenotype
650 0 4 _aProcollagen
_xanalysis
650 0 4 _aProtein Processing, Post-Translational
700 1 _aRao, V H
700 1 _aGlanville, R W
700 1 _aLabhard, M E
700 1 _aPretorius, P J
700 1 _ade Vries, W N
700 1 _ade Wet, W J
700 1 _aHollister, D W
773 0 _tConnective tissue research
_gvol. 29
_gno. 1
_gp. 1-11
856 4 0 _uhttps://doi.org/10.3109/03008209309061961
_zAvailable from publisher's website
999 _c8338814
_d8338814