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Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.

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(1)Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. Gwenaëlle Collod, Mon-Li Chu, Takako Sasaki, Monique Coulon, Ruppert Timpl, Loretta Renkart, Jean Weissenbach, Guillaume Jondeau, Jean-Pierre Bourdarias, Claudine Junien, et al.. To cite this version: Gwenaëlle Collod, Mon-Li Chu, Takako Sasaki, Monique Coulon, Ruppert Timpl, et al.. Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.. European Journal of Human Genetics, Nature Publishing Group, 1996, 4 (5), pp.292-5. �inserm-00143563�. HAL Id: inserm-00143563 https://www.hal.inserm.fr/inserm-00143563 Submitted on 2 Dec 2008. HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers.. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés..

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(123) ¥Ov0wT nm"mc]0Z _  ZOx jv0v0cZq¢  † d0 Y¢^ jZ0 0Zzdnf^x jZ Z0 x qfFmT p d{wT0x Dmox› nmG{W© jZ00xzc p m j­0­q¬ {µ0µ ˆ ¬ µ ± a ¬ 0¶  . ®   0d jZq¢ _ ’ a _ 1dnf _ ` a–b _ ƒ Z _sh a„ _ k^ nmo i0c _}h._^h cxªv0 _Ou‚_ Z0©>i g ]0x _ ƒ>¨.¥q wT p ”f^ w x

(124) wc”¥ v0wTO  jcZ † c g f^cyZ0a µ cm

(125) ¥0v0wT ,m"mT Q7cZ? d0 x g wIžOZ{c p Z00 p wTqc  p fFm„dqcZ? cmmIfs ! ZO€c§m5 v0wT0xzcZO Zn p 0xzv^0Z0 Z, V † —^ ˜—^ nmVcyZ Bnf^” 9d0 Q wI Bš

(126) —ª Yc j­0­±  j®0° ˆ  ‘ a µ ®  . qf^wT0 wc] nm _1| ”aƒ1 _ ° M ‚0c] B

(127) f _  _  _ W _‡| f^Zqc] jZ _  _‡| ZO0 B

(128) f _ W _ š©f g Of^w¢ _  _  ‚ZO  c]aƒV jc]™ _  _qœ wT™ ¨  0_ |  _O` wTq  B

(129) f0¥ _ ƒ> h dO rnfs nmI c]0Z  † d0

(130)  wo¢^ ZO c” žªcZ `  w † Z&mž{Z0qwT0x q Š•

(131) f^wT W$ Z0

(132) c p m j­0­± _ ­ ˆ µ^0¶ a µ^  . 

(133)   ±.

(134) . † ”fs0wT nm p  Z p &0 x›Z^mI wT

(135) cZ  †

(136) ¥{ wT p y”f^] w † c g f^cZ0a µ ZO

(137) X 0w„i}mcZ p Z † ”fs Zn † c g Tw  g ] nm p f^” f^wT nm n¤•ˆnv^ G c] Zn _ ›ˆ¨f^Z0 †† p  B p 0Zn wT0 F¼.  !. .‰„xzx©f^ZO. F¼ 9ˆk^ ¢0wT ¢^ G c]Z› F† † c g f^cZ0a µ x› w„i^ w"mcZ© d0 ` w † Zªi0cZ0qwT Q} ²Š•O   dO

(138) ¡v^ Z0 jV¤ jZ0Œv^ ZO < wo v0wT nmo Zn ¡qc †† wT Z, v^ wI Tm‚ † Sm„cyZq¢0] v^ Bqc¢0wT B  c˜ q _ v^ Z0 F cm d0 &wc¢0dn X› wT

(139) ¥{  Zmc]Z  † v^ ZO V¤ ´  ’ v0O ž{v^ nm$ G „¤Y—^ ‰‰ ZO T²„1¤ ´ Z ¡x w„i^ wm wo Sm„dOOXªZ.  !. † 0w5 B p d † jxzc”žEx x g w&  nm  B}e ¡] p i^ Z0 Q mž{x g 0 m50 ZOO  ! †† p  B x› x g jw"m _ f^Z g ] p i^ Z0 B mIž{x g §m0 ZOO  f^ZO †† p  QSm„v^qfFmT ,m10wVf^Z0

(140) ¥ xzcZO B †  xªc”ž x jx g wm _ f^Z g ] p i^ Z0 BHmIž{x g mVXªc” d R0O cZ dO p Zn  w;0 ZOO  ?x jx g wm p Z^m„c]0 jwT B f^Z0 †† p  B _ ZO dO

(141) p dO B mž{x g 0m;0 ZOO . x x g  w"mªd0

(142) —OcZq¢ j Z! x g c¢qfsqfFmzv0d0 jZ0q žqv0c p mI 

(143) fFm› Z0 p w„wIž{cZ{¢ d0 &f^ZqwT p x g cZ0 Q  v › x w„i^ w ` œ k µ *¤lm] nm„d;0 ZOO  ,mY d0

(144)  dO † xzc”ž x x g wcm 0 p B nmo B}F¤Z nIm  jw„cm„i d0 jv0]O ž{v^ HcZ{i^ B  ; cZOqc p

(145)  nm$ d0 ( g yc¢^

(146)  5 Z0 v^Dmm„c g ] Swo p 0x g cZO Zn Tm *¤zm p 0xzv^ wT B(Xzc˜ d v0wo

(147) —0c]qfFm$wT v^0wI Tm _ g ]^ mT jxzv0] nm1X› wT p 0 ] p  B † 0 w  ¶ ZO

(148) X † xªc”žHx› x g jw"m¡²I‰„‰„‰ ±,¬ _ ‰ µ ­ _ ‰ ¬V _ ‰   0_  ¬ _ Z0  ±,´ ZO ¬ x› x g jw"m † 0w*Xzd{c p d©š‚Š¤tmo xzv0] nm9X wo 0 v0]

(149)  B ²I‰‰ ‰ ±  ´ . 

(150)  . ­ 0¶ _ ‰  *­  _   _  µ^_  ¶0_ ‰‰  0_ ‰  q^µ _  Z0. ®.

(151)

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