%PDF-1.3
%
1 0 obj
<>
endobj
2 0 obj
<>stream
Retina,Macular dystrophy,Next generation sequencing,CRX,"ABCA4 sequence variant, mutation","Phenotype/genotype, reduced penetrance, family survey"
Acrobat Distiller 10.0.0 (Windows); modified using iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version)
application/pdf
10.1186/s12886-021-01919-1
BMC Ophthalmology
BMC Ophthalmology, 2021, doi:10.1186/s12886-021-01919-1
Retina
Macular dystrophy
Next generation sequencing
CRX
ABCA4 sequence variant, mutation
Phenotype/genotype, reduced penetrance, family survey
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
Saoud Al-Khuzaei
Karl A. Z. Hudspith
Suzanne Broadgate
Morag E. Shanks
Penny Clouston
Andrea H. Németh
Stephanie Halford
Susan M. Downes
2021-04-09T10:44:17+02:00
2021-04-09T10:44:17+02:00
2021-04-07T08:02:14+08:00
Arbortext Advanced Print Publisher 9.1.440/W Unicode
uuid:82b41429-f3a3-4e17-b3e0-6729bbc3e2a8
uuid:3e4e313c-b3ed-4bcf-9966-35e6875aff0c
default
1
converted
uuid:82b41429-f3a3-4e17-b3e0-6729bbc3e2a8
converted to PDF/A-2b
pdfToolbox
2021-04-07T10:34:30+08:00
2
B
Susan M. Downes
http://orcid.org/0000-0001-7373-2665
Springer Nature ORCID Schema
http://springernature.com/ns/xmpExtensions/2.0/
sn
authorInfo
Bag AuthorInformation
external
Author information: contains the name of each author and his/her ORCID (ORCiD: Open Researcher and Contributor ID). An ORCID is a persistent identifier (a non-proprietary alphanumeric code) to uniquely identify scientific and other academic authors.
editorInfo
Bag EditorInformation
external
Editor information: contains the name of each editor and his/her ORCID identifier.
seriesEditorInfo
Bag SeriesEditorInformation
external
Series editor information: contains the name of each series editor and his/her ORCID identifier.
AuthorInformation
http://springernature.com/ns/xmpExtensions/2.0/authorInfo/
author
Specifies the types of author information: name and ORCID of an author.
name
Text
Gives the name of an author.
orcid
URI
Gives the ORCID of an author.
EditorInformation
http://springernature.com/ns/xmpExtensions/2.0/editorInfo/
editor
Specifies the types of editor information: name and ORCID of an editor.
name
Text
Gives the name of an editor.
orcid
URI
Gives the ORCID of an editor.
SeriesEditorInformation
http://springernature.com/ns/xmpExtensions/2.0/seriesEditorInfo/
seriesEditor
Specifies the types of series editor information: name and ORCID of a series editor.
name
Text
Gives the name of a series editor.
orcid
URI
Gives the ORCID of a series editor.
http://ns.adobe.com/pdf/1.3/
pdf
Adobe PDF Schema
internal
A name object indicating whether the document has been modified to include trapping information
Trapped
Text
http://ns.adobe.com/xap/1.0/mm/
xmpMM
XMP Media Management Schema
internal
UUID based identifier for specific incarnation of a document
InstanceID
URI
internal
The common identifier for all versions and renditions of a document.
OriginalDocumentID
URI
internal
A reference to the original document from which this one is derived. It is a minimal reference; missing components can be assumed to be unchanged. For example, a new version might only need to specify the instance ID and version number of the previous version, or a rendition might only need to specify the instance ID and rendition class of the original.
DerivedFrom
ResourceRef
Identifies a portion of a document. This can be a position at which the document has been changed since the most recent event history (stEvt:changed). For a resource within an xmpMM:Ingredients list, the ResourceRef uses this type to identify both the portion of the containing document that refers to the resource, and the portion of the referenced resource that is referenced.
http://ns.adobe.com/xap/1.0/sType/Part#
stPart
Part
http://ns.adobe.com/xap/1.0/t/pg/
xmpTPg
XMP Paged-Text
internal
A structure containing the characteristics of a font used in a document
Fonts
Bag Font
internal
XMP08 Spec: An ordered array of plate names that are needed to print the document (including any in contained documents).
PlateNames
Seq Text
A structure containing the characteristics of a font used in a document.
http://ns.adobe.com/xap/1.0/sType/Font#
stFnt
Font
http://ns.adobe.com/pdfx/1.3/
pdfx
Adobe Document Info PDF eXtension Schema
internal
ID of PDF/X standard
GTS_PDFXVersion
Text
internal
Conformance level of PDF/X standard
GTS_PDFXConformance
Text
internal
Company creating the PDF
Company
Text
internal
Date when document was last modified
SourceModified
Text
http://www.aiim.org/pdfa/ns/id/
pdfaid
PDF/A ID Schema
internal
Part of PDF/A standard
part
Integer
internal
Amendment of PDF/A standard
amd
Text
internal
Conformance level of PDF/A standard
conformance
Text
endstream
endobj
3 0 obj
<>
endobj
4 0 obj
<>
endobj
6 0 obj
<>/BBox[0 0 4.93298 9.80798]/Length 15>>stream
HR(T0 u
endstream
endobj
7 0 obj
<>/ExtGState<>/ProcSet[/PDF/Text/ImageC/ImageB/ImageI]/Font<>/XObject<>/Properties<>>>/Annots[23 0 R 24 0 R 25 0 R]/CropBox[0 0 595.276 790.866]/Parent 26 0 R/Rotate 0/MediaBox[0 0 595.276 790.866]>>
endobj
27 0 obj
<>stream
xۖdǑ^_UZwwl6{3lkAC1Q J()/f>Xn{Ȍi<7?~n/~p+w!o7COp/~wOo߿_}̇ۏ/C[]>w_m?c{%*pSCmSwun/O7&t0#9}Krzxu;R1wS1Z擐-~]?!&F5烿q-#Vq5^wT{C妵zJ/=myaq;#Kc[LAh3 qx2)4'̅BD\8
^f!CQ}vKr/.#W-#WƑ+C~tY\c:2VO-j_y|0q'źx[g_^׃,"Ս:+*oܷyշFϯEP6tlU_K79GL&|+ޤ^w[F/|_sWd̶s>/ߤvë}[IzB+/nعE{woʩ{@}7}S{˝/ٹ%7usq}Ʒͽ֛{^p_w߂owrvp{ V/'5gbKsv6>9xGMN.ӛ͛o|7ߪNZ?oR_IOzYs6; >b}藸ox|;?q;X1w8ǯzu W^/;xj3ҽ=e'>d7[Kc+el<8?F6KK78??&x}~mPǾ۾MD4uTO0B*CO-Ke/G ?{j:oDlq1oFOF)";E3|z:]=*r-oƘV?d)?YY[\f72w_}+'ڦ{/ v6qՂs-݄,sZ 5{o$W-{x>#];5g"lxa}'aBN/G;ygW[OF:tFrFw&kfW1pofk&|%vև]lE8COI[v%rʀopw~#EE9E}o[rtO_/}8ƕ˜!>nvwx7">s9Y:˿߷w=ЕzocSc_N]>;S$wo??\]K-}1}}zJ[_iBwK
Rqz|jzһ̏]H";f
P}qFu^HOv;Wɛ;ßD~M%K"#~6}i~feu*lw:^ojE)&Wz?YR(o0>0{z[t;ݛ/}}<1t.e?Vw8eؗQw_?vEv?*nΰڿ]
͝^Uw&MtfU1ūѕg|[!|obc?W]&ir_{gyʶmLMpoO2x1]Wh՛8}[v=K^\E.tqSK1\+yM1=+OL!
.
>wdSj8N-!y:f/c8S_[~ᘭ~_}/_oJr) ~EKו9vu]_-?_+
4 VT<wk[=@7líyͽ(R.DTy؇ۺ4&ΓCusW_=~|r:@m[nZ|uv|ˉIo'vIosgLI-k;umO"Nm˘c1瘻3,Y~15-wc.1CioNs\w\j9o!\m].Wsr/njĮܼ|.mjW7', uU;+N-kN[kwg;Qy^I.ZE"w;XcRJ|xwtgVT,22l8s{%pb+ΎuNժ]%Zzwihccĉy+
:Uϣs7bNy]UO20Ui*ɖhA8wJ6{s#2/qh964~(}nW`E\JFfs IDt"
e۩KQ8HATr]Uª*
몪U]U~]Ur*
E@'XSIgے:ٖ.P^Rr&T\.ٶ[Oa>_z*)/ɏMW[ITnZ(ceȇ|xß2&FԑI>fgi3wR(Y:ĨN]_Eѹdu/9NwquxNb>@~Z_o9+0eM{ YO0'?|~)M"D;'YQMot
|lǝ#sQc$S
^U;ꖯq9a6COLjMtJ q,<CK}I;tbܭ0j=\Iݔ8fOk6H<Qcט#-9"DZi@AHqpt\ Hj:>C9sP:cJGq//ucc咲zo8:WzSq$+|}*E6md7>"3w$}P'j}]gJ}n_IT)}vODJW>W wߔKF;
S 6a#K5I$ӫ'*wxY2bqiFI
9/SPA::2DQx$ۼ{ƉJ~n%>Zq'k_rN!F[P^5EUoF I;_ވ[ȿddvMqb
VIDZ<gau}!1Bn!xKyiñpxbp$,bX":Yqf*6Gb~b'qÔ7
nƫ32E8Æo* 5q2# SW2f;,vg!$/ƂN˂چ㍞V9B&o p Ss֜dvWBuX6.>ƾ)/o:ܿ'}TYʲs"<%|a瘌H>L%eqYXRarV$dp.}~D.!S&=aQF]%!m
h# CIh*XZ-<=)E>3~cǕ:ܮVAWwIL\(#j${{'"!/Ft!vܧ.'ىn_Ac?v:e>q.7.([KeaJX2LoiFJ֦B0q LZ(&x&9ViGYMb[)T`@ 6L
,K$zQxf'1Ɍ!WLlql藫j_(άA'#Ah{.}7;aĉNwַu2ʍTUv?W873)(1,] 8DG]=U ]RaL2lN<уnY\ʑa:i<fT4 WV;'ۣ##XD
v(
(g8m&h+5F|މ%
R]98ݡqq>OS$}2$+˭}W4;^CW͈S{[a%զs8&
:4fVyH30f[bTf1p3'0{"|):$[>%EZKm&^4_ Bx}~ UM&V V.UilBlOwrܰ",LRK%+tQSop_7,
׀T-SeA,,]ol_h'y}
F7YcoZ\ˎ_~V,T~s4Sz+',$kl&PnT4dUU]PyQ:匹S,x!d3m#1P(
n$Ji][ԛm #SXNRa?Ro_V*UiGH?9! %\EU" Zz-ʫ{?mD&wr$@pAjX(l>5