000 01235 a2200361 4500
005 20250516141242.0
264 0 _c20140530
008 201405s 0 0 eng d
022 _a1365-2230
024 7 _a10.1111/ced.12116
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aChen, Q
245 0 0 _aNew mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.
_h[electronic resource]
260 _bClinical and experimental dermatology
_cOct 2013
300 _a792-4 p.
_bdigital
500 _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aCodon, Nonsense
650 0 4 _aEpidermolysis Bullosa Simplex
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMuscular Dystrophies, Limb-Girdle
_xgenetics
650 0 4 _aMutation
650 0 4 _aPlectin
_xgenetics
650 0 4 _aScoliosis
_xcomplications
700 1 _aLin, Z M
700 1 _aWang, H J
700 1 _aZhang, J
700 1 _aYin, J H
700 1 _aYang, Y
773 0 _tClinical and experimental dermatology
_gvol. 38
_gno. 7
_gp. 792-4
856 4 0 _uhttps://doi.org/10.1111/ced.12116
_zAvailable from publisher's website
999 _c22585882
_d22585882