000 02112 a2200661 4500
005 20250515210618.0
264 0 _c20101222
008 201012s 0 0 eng d
022 _a1365-2133
024 7 _a10.1111/j.1365-2133.2010.09713.x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aEscámez, M J
245 0 0 _aThe first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
_h[electronic resource]
260 _bThe British journal of dermatology
_cJul 2010
300 _a155-61 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCohort Studies
650 0 4 _aCollagen Type VII
_xgenetics
650 0 4 _aDNA Mutational Analysis
_xmethods
650 0 4 _aEpidermolysis Bullosa Dystrophica
_xgenetics
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMutation
650 0 4 _aReverse Transcriptase Polymerase Chain Reaction
650 0 4 _aSeverity of Illness Index
650 0 4 _aSpain
650 0 4 _aYoung Adult
700 1 _aGarcía, M
700 1 _aCuadrado-Corrales, N
700 1 _aLlames, S G
700 1 _aCharlesworth, A
700 1 _aDe Luca, N
700 1 _aIllera, N
700 1 _aSánchez-Jimeno, C
700 1 _aHolguín, A
700 1 _aDuarte, B
700 1 _aTrujillo-Tiebas, M J
700 1 _aVicario, J L
700 1 _aSantiago, J L
700 1 _aHernández-Martín, A
700 1 _aTorrelo, A
700 1 _aCastiglia, D
700 1 _aAyuso, C
700 1 _aLarcher, F
700 1 _aJorcano, J L
700 1 _aMeana, A
700 1 _aMeneguzzi, G
700 1 _aZambruno, G
700 1 _aDel Rio, M
773 0 _tThe British journal of dermatology
_gvol. 163
_gno. 1
_gp. 155-61
856 4 0 _uhttps://doi.org/10.1111/j.1365-2133.2010.09713.x
_zAvailable from publisher's website
999 _c19552945
_d19552945