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1989 1
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MASA syndrome: further clinical delineation and chromosomal localisation.
Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN. Winter RM, et al. Hum Genet. 1989 Jul;82(4):367-70. doi: 10.1007/BF00273999. Hum Genet. 1989. PMID: 2737668
We demonstrate by clinical and gene mapping studies that MASA syndrome is most likely the same condition as that described by Kenwrick et al., and we review its clinical course and presentation....
We demonstrate by clinical and gene mapping studies that MASA syndrome is most likely the same condition as that described by Kenwrick et al …
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
De Angelis E, Watkins A, Schäfer M, Brümmendorf T, Kenwrick S. De Angelis E, et al. Hum Mol Genet. 2002 Jan 1;11(1):1-12. doi: 10.1093/hmg/11.1.1. Hum Mol Genet. 2002. PMID: 11772994
Therefore, we demonstrate for the first time that most missense mutations found in affected families have functional consequences. Furthermore, mutations that are predicted to affect the structure of individual extracellular domains are more likely to affect intracellular …
Therefore, we demonstrate for the first time that most missense mutations found in affected families have functional consequences. Furthermo …
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Liebau MC, Gal A, Superti-Furga A, Omran H, Pohl M. Liebau MC, et al. Pediatr Nephrol. 2007 Jul;22(7):1058-61. doi: 10.1007/s00467-006-0424-8. Epub 2007 Feb 10. Pediatr Nephrol. 2007. PMID: 17294222
Genetic testing of the patient and his mother identified a 2 bp deletion in the invariant splice consensus sequence of intron 18 of L1CAM, predicting a largely truncated or absent protein. At the age of 9 years, 7 years after heminephrectomy, the boy has normal renal funct …
Genetic testing of the patient and his mother identified a 2 bp deletion in the invariant splice consensus sequence of intron 18 of L1CAM, …