Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'EXON MUTATION' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 9 riferimenti
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    1. Tiller, GE; Hannig, VL; Dozier, D; Carrel, L; Trevarthen, KC; Wilcox, WR; Mundlos, S; Haines, JL; Gedeon, AK; Gecz, J
      A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Fujimaru, M; Tanaka, A; Choeh, K; Wakamatsu, N; Sakuraba, H; Isshiki, G
      Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3 '-splice site selection and cause Sandhoff disease

      HUMAN GENETICS
    3. THORN JA; NEEDHAM EWA; MATTU RK; STOCKS J; GALTON DJ
      THE SER(447)-TER MUTATION OF THE LIPOPROTEIN-LIPASE GENE RELATES TO VARIABILITY OF SERUM-LIPID AND LIPOPROTEIN LEVELS IN MONOZYGOTIC TWINS

      Journal of lipid research
    4. POHLENZ J; ROSENTHAL IM; WEISS RE; JHIANG SM; BURANT C; REFETOFF S
      CONGENITAL HYPOTHYROIDISM DUE TO MUTATIONS IN THE SODIUM IODIDE SYMPORTER - IDENTIFICATION OF A NONSENSE MUTATION PRODUCING A DOWNSTREAM CRYPTIC 3'-SPLICE-SITE/

      The Journal of clinical investigation
    5. BOOT RG; RENKEMA GH; VERHOEK M; STRIJLAND A; BLIEK J; DEMEULEMEESTER TMAMO; MANNENS MMAM; AERTS JMFG
      THE HUMAN CHITOTRIOSIDASE GENE - NATURE OF INHERITED ENZYME DEFICIENCY

      The Journal of biological chemistry
    6. GIBSON MA; ELLIS SL; ADES LC; HAAN E; CLEARY EG
      PREFERENTIAL PRE-MESSENGER-RNA UTILIZATION OF AN UPSTREAM CRYPTIC 5'-SPLICE-SITE CREATED BY A SINGLE-BASE DELETION MUTATION IN EXON-37 OF THE FBN-1 GENE

      European journal of biochemistry
    7. KAWAI S; NOMURA S; HARANO T; HARANO K; FUKUSHIMA T; WAGO M; SHIMIZU B; OSAWA G
      A SINGLE-BASE MUTATION IN EXON-31 CONVERTING GLYCINE-852 TO ARGININE IN THE COLLAGENOUS DOMAIN IN AN ALPORT SYNDROME PATIENT

      Nephron
    8. OOKAWARA T; DAVE V; WILLEMS P; MARTIN JJ; DEBARSY T; MATTHYS E; YOSHIDA A
      RETARDED AND ABERRANT SPLICINGS CAUSED BY SINGLE EXON MUTATION IN A PHOSPHOGLYCERATE KINASE VARIANT

      Archives of biochemistry and biophysics
    9. EVERT B; GRIESE EU; EICHELBAUM M
      A MISSENSE MUTATION IN EXON-6 OF THE CYP2D6 GENE LEADING TO A HISTIDINE-324 TO PROLINE EXCHANGE IS ASSOCIATED WITH THE POOR METABOLIZER PHENOTYPE OF SPARTEINE

      Naunyn-Schmiedeberg's archives of pharmacology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 00:54:58