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IDENTIFICATION OF A COMMON MUTANT ALLELE IN THE PULMONARY SURFACTANT PROTEIN-B (SP-B) GENE IN PATIENTS WITH NEONATAL ALVEOLAR PROTEINOSIS
Authors: NOGEE LM MURPHY AM DIETZ HC
Citation: Lm. Nogee et al., IDENTIFICATION OF A COMMON MUTANT ALLELE IN THE PULMONARY SURFACTANT PROTEIN-B (SP-B) GENE IN PATIENTS WITH NEONATAL ALVEOLAR PROTEINOSIS, American journal of human genetics, 53(3), 1993, pp. 93-93
NONSENSE MUTATIONS ACT IN CIS TO ALTER SPLICE-SITE SELECTION - VERIFICATION IN A HETEROLOGOUS EXPRESSION SYSTEM
Authors: DIETZ HC KENDZIOR RJ ELDADAH ZA
Citation: Hc. Dietz et al., NONSENSE MUTATIONS ACT IN CIS TO ALTER SPLICE-SITE SELECTION - VERIFICATION IN A HETEROLOGOUS EXPRESSION SYSTEM, American journal of human genetics, 53(3), 1993, pp. 675-675
4 NOVEL FBN1 MUTATIONS IMPLICATE MUTANT TRANSCRIPT LEVEL AND EGF-LIKEDOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME
Authors: ELDADAH ZA MCINTOSH I PYERITZ RE FRANCOMANO CA DIETZ HC
Citation: Za. Eldadah et al., 4 NOVEL FBN1 MUTATIONS IMPLICATE MUTANT TRANSCRIPT LEVEL AND EGF-LIKEDOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1154-1154
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