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Results: 3
MOLECULAR CHARACTERIZATION OF PYRUVATE-CARBOXYLASE DEFICIENCY IN 2 CONSANGUINEOUS FAMILIES
Authors: WEXLER ID KERR DS DU YF KAUNG MM STEPHENSON W LUSK MM WAPPNER RS HIGGINS JJ
Citation: Id. Wexler et al., MOLECULAR CHARACTERIZATION OF PYRUVATE-CARBOXYLASE DEFICIENCY IN 2 CONSANGUINEOUS FAMILIES, Pediatric research, 43(5), 1998, pp. 579-584
3 NEW MUTATIONS OF THE PYRUVATE-DEHYDROGENASE ALPHA-SUBUNIT - A POINTMUTATION (M181V), 3-BP DELETION (-R282), AND 16-BP INSERTION FRAMESHIFT (K358SVS-]TVDQS)/
Authors: TRIPARARA A KERR DS LUSK MM KOLLI M TAN J PATEL MS
Citation: A. Triparara et al., 3 NEW MUTATIONS OF THE PYRUVATE-DEHYDROGENASE ALPHA-SUBUNIT - A POINTMUTATION (M181V), 3-BP DELETION (-R282), AND 16-BP INSERTION FRAMESHIFT (K358SVS-]TVDQS)/, Human mutation, 8(2), 1996, pp. 180-182
PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY DUE TO A POINT MUTATION (P188L) WITHIN THE THIAMINE PYROPHOSPHATE BINDING LOOP OF THE E(1)ALPHA SUBUNIT
Authors: HEMALATHA SG KERR DS WEXLER ID LUSK MM KAUNG M DU YF KOLLI M SCHELPER RL PATEL MS
Citation: Sg. Hemalatha et al., PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY DUE TO A POINT MUTATION (P188L) WITHIN THE THIAMINE PYROPHOSPHATE BINDING LOOP OF THE E(1)ALPHA SUBUNIT, Human molecular genetics, 4(2), 1995, pp. 315-318
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