000 02090 a2200649 4500
005 20250516223701.0
264 0 _c20150420
008 201504s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.36678
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBayram, Yavuz
245 0 0 _aWhole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cSep 2014
300 _a2328-34 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAlopecia
_xgenetics
650 0 4 _aAnodontia
_xgenetics
650 0 4 _aBase Sequence
650 0 4 _aChild
650 0 4 _aChromosome Segregation
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExome
_xgenetics
650 0 4 _aFacies
650 0 4 _aFamily
650 0 4 _aFemale
650 0 4 _aGrowth Disorders
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMicrofilament Proteins
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
_xgenetics
650 0 4 _aNeoplasm Proteins
_xchemistry
650 0 4 _aOptic Atrophies, Hereditary
_xgenetics
650 0 4 _aPedigree
650 0 4 _aProtein Structure, Tertiary
650 0 4 _aReceptors, Cell Surface
_xchemistry
700 1 _aPehlivan, Davut
700 1 _aKaraca, Ender
700 1 _aGambin, Tomasz
700 1 _aJhangiani, Shalini N
700 1 _aErdin, Serkan
700 1 _aGonzaga-Jauregui, Claudia
700 1 _aWiszniewski, Wojciech
700 1 _aMuzny, Donna
700 1 _aElcioglu, Nursel H
700 1 _aYildirim, M Selman
700 1 _aBozkurt, Banu
700 1 _aZamani, Ayse Gul
700 1 _aBoerwinkle, Eric
700 1 _aGibbs, Richard A
700 1 _aLupski, James R
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 164A
_gno. 9
_gp. 2328-34
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.36678
_zAvailable from publisher's website
999 _c24026646
_d24026646