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1129T Exome sequencing of four dyschromatosis
universalis hereditaria patients and one unaffected
person from a Chinese pedigree.
Y. Li, H. Liu, H. Liany,
F. Zhang, J. Liu.
1130T Whole exome sequencing in a single nuclear
family finds novel compound heterozygous changes in
KCTD7 causing late infancy-childhood
neurodegeneration.
T. C. Markello, D. A. Adams, L.
Wolfe, M. Sincan, K. Fuentes Fajardo, M. P. Jones, U.
Harper, S. Chandrasekharappa, C. J. Tifft, C. Boerkoels,
W. A. Gahl, NISC Comparative Sequencing Program.
1131T Mutations in the amiloride-sensitive epithelial
sodium channel in African patients with cystic fibrosis-
like disease.
L. Mutesa, C. Verhaeghe, J. F.
Vanbellinghen, V. Dhennin, V. Bours.
1132T Identification of genes for nonsyndromic
hearing impairment using haplotype sharing and
exome sequencing.
M. Schraders, K. Neveling, J.
Oostrik, C. F. H. A. Gilissen, R. J. C. Admiraal, J. A.
Veltman, H. P. M. Kunst, E. H. Hoefsloot, R. J. E.
Pennings, H. Kremer.
1133T Identification of a frameshift mutation in HMGB3
(MIM 300193) in a family with Lenz microphthalmia
(MCOPS1; MIM 302300).
A. F. Scott, D. W. Mohr, L. M.
Kasch, J. A. Barton, B. Craig, B. A. Marosy, K. F. Doheny,
W. C. Bromley, T. Roderick, E. W. Jabs.
1134T Replication evidence that constituents of the
apical plasma membrane contribute to meconium ileus
in cystic fibrosis.
X. Li, H. Corvol, W. Li, T. Chiang, F. Lin,
P.-Y. Boelle, M. Drumm, G. Cutting, M. Knowles, P. Durie,
J. Rommens, L. Sun, L. Strug.
1135T Looking for regulators of dystrophin Dp71 gene
expression in hepatic cells.
C. Becerril, E. Blancas-
Sánchez, P. Zapata-Benavides, J. Dávila-Velderrain, B.
Cisneros, M. Bermúdez de León.
1136T Studying familial hypercholesterolemia by
means of real-time PCR expression.
T. Yu. Komarova,
A. S. Golovina.
1137T Genotype-phenotype correlation in beta
thalassaemia.
Z. Abdul Latiff, M. Sivalingam, M.. L. Looi,
N. D. Husin, F. Z. Mohd Radin, R. Mohd Isa, S. Z. Syed
Zakaria, N. H. Hussin, H. Alias, H. Ibrahim, R. Jamal.
1138T Increased rate of nontruncating mutations in the
NF1
gene among individuals with
NF1
related
disorders and pulmonic stenosis: A novel genotype-
phenotype correlation and insight.
S. Ben-Shachar, S.
Constantini, E. Sach, D. G. Evans, S. M. Huson.
1139T TRIM50 forms a complex with HDAC6 and p62/
SQSTM1 that localizes to aggresomes.
C. Fusco, L.
Micale, M. Egorov, M. Monti, E. V. D’Addetta, B. Augello,
G. Cotugno, F. Cozzolino, A. Calcagnì, M. N. Loviglio, R.
S. Polishchuk, P. Pucci.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
1140T Molecular analysis of NPHS2 gene in a Brazili
cohort with childhood nephrotic syndrome.
M. S.
Guaragna, A. C. G. B. Lutaif, S. Z. P. Rigazzo, V. M. S.
Belangero, G. Guerra-Júnior, M. P. de Mello.
1141T A novel mutation in the AMELX gene and
multiple crown resorptions.
J. W. Kim, S. K. Lee, K. E
Lee, S. E. Jung, S. J. Song, S. H. Cho.
1142T Molecular characterization of thalassemia:
Effect of alpha gene number on phenotype.
R. Kuma
S. Agarwal.
1143T Analysis of the polymorphism -930 A/G
(rs9932581) in the CYBA gene in pediatric patients
sickle cell anemia.
M. B. Melo, G. P. Gil, G. Ananina,
B. Oliveira, M. J. Silva, D. Stancato, F. Menaa, M. N. N.
Santos, A. S. Araujo, M. A. Bezerra, F. F. Costa.
1144T Functional consequences and structural
interpretation of mutations of human choline
acetyltransferase.
X. Shen, T. Crawford, J. Brengman,
Acsadi, S. Iannaconne, E. Karaca, C. Khoury, J. Mah, S
Edvardson, Z. Bajzer, D. Rodgers, A. Engel.
1145T Heme oxygenase-1 gene promoter
polymorphism is associated with reduced incidence
acute chest syndrome in children with sickle cell
anemia.
C. Bean, S. Boulet, D. Ellingsen, M. Pyle, E.
Barron-Casella, J. Casella, S. Ofori-Acquah, W. C. Hoo
M. DeBaun.
1146T Homozygous c.369_370delAG and c.374_
376delCGC mutation in STX11 gene in a patient with
familial hemophagocytic lymphohistiocytosis.
H. On
D. Yilmaz Karapinar, A. Aykut, S. Gokce, B. Karapinar,
Ozkinay.
1147T STK4 deficiency: A novel primary
immunodeficiency affecting both innate and adaptiv
immunity and including cardiac defects.
A. A. Schaff
H. Abdollahpour, G. Appaswamy, R. Beier, E. M. Gertz,
Schambach, H. H. Kreipe, D. Pfeifer, K. R. Engelhardt,
Rezaei, B. Grimbacher, S. Lohrmann, R. Sherkat, C. Kle
1148T Mutations in
KIF7
link Joubert syndrome with
Sonic Hedgehog signaling and microtubule dynamic
H. J. Bolz, C. Dafinger, M. C. Liebau, S. M. Elsayed, Y.
Hellenbroich, E. Boltshauser, G. C. Korenke, F. Fabretti,
R. Janecke, I. Ebermann, G. Nürnberg, P. Nürnberg, H.
Zentgraf, F. Koerber, K. Addicks, E. Elsobky, T. Benzing,
Schermer.
1149T FORGE Canada: A nation-wide effort to identi
genes causing Mendelian disorders.
K. M. Boycott,
L. Beaulieu, J. Marcadier, J. Michaud, J. Friedman, M.
Samuels, B. Knoppers, B. Fernandez, F. Bernier, S.
Scherer, M. Brudno, FORGE Canada Consortium.
1150T Whole-exome sequencing in a single proband
reveals causative mutation in autosomal recessive
peeling skin syndrome.
R. M. Cabral, M. Kurban, M.
Wajid, Y. Shimomura, L. Petukhova, A. M. Christiano.