AAAAAA

   
Results: 1-11 |
Results: 11
A QUANTITATIVE RANKING SYSTEM FOR RELATING GENOTYPE TO PHENOTYPE IN ADENOSINE-DEAMINASE (ADA) DEFICIENCY, BASED ON THE EXPRESSED ACTIVITY OF 29 MUTANT ALLELES IN ESCHERICHIA-COLI
Authors: HERSHFIELD MS ARREDONDOVEGA FX SANTISTEBAN I DANIELS S TOUTAIN S
Citation: Ms. Hershfield et al., A QUANTITATIVE RANKING SYSTEM FOR RELATING GENOTYPE TO PHENOTYPE IN ADENOSINE-DEAMINASE (ADA) DEFICIENCY, BASED ON THE EXPRESSED ACTIVITY OF 29 MUTANT ALLELES IN ESCHERICHIA-COLI, Molecular immunology, 35(11-12), 1998, pp. 716-716
ADENOSINE-DEAMINASE DEFICIENCY - GENOTYPE-PHENOTYPE CORRELATIONS BASED ON EXPRESSED ACTIVITY OF 29 MUTANT ALLELES
Authors: ARREDONDOVEGA FX SANTISTEBAN I DANIELS S TOUTAIN S HERSHFIELD MS
Citation: Fx. Arredondovega et al., ADENOSINE-DEAMINASE DEFICIENCY - GENOTYPE-PHENOTYPE CORRELATIONS BASED ON EXPRESSED ACTIVITY OF 29 MUTANT ALLELES, American journal of human genetics, 63(4), 1998, pp. 1049-1059
CLINICAL EXPRESSION, GENETICS AND THERAPY OF ADENOSINE-DEAMINASE (ADA) DEFICIENCY
Authors: HERSHFIELD MS ARREDONDOVEGA FX SANTISTEBAN I
Citation: Ms. Hershfield et al., CLINICAL EXPRESSION, GENETICS AND THERAPY OF ADENOSINE-DEAMINASE (ADA) DEFICIENCY, Journal of inherited metabolic disease, 20(2), 1997, pp. 179-185
ADENOSINE-DEAMINASE DEFICIENCY IN ADULTS
Authors: OZSAHIN H ARREDONDOVEGA FX SANTISTEBAN I FUHRER H TUCHSCHMID P JOCHUM W AGUZZI A LEDERMAN HM FLEISCHMAN A WINKELSTEIN JA SEGER RA HERSHFIELD MS
Citation: H. Ozsahin et al., ADENOSINE-DEAMINASE DEFICIENCY IN ADULTS, Blood, 89(8), 1997, pp. 2849-2855
HEPATIC-DYSFUNCTION AS A COMPLICATION OF ADENOSINE-DEAMINASE DEFICIENCY
Authors: BOLLINGER ME ARREDONDOVEGA FX SANTISTEBAN I SCHWARZ K HERSHFIELD MS LEDERMAN HM
Citation: Me. Bollinger et al., HEPATIC-DYSFUNCTION AS A COMPLICATION OF ADENOSINE-DEAMINASE DEFICIENCY, The New England journal of medicine, 334(21), 1996, pp. 1367-1371
4 NEW ADENOSINE-DEAMINASE MUTATIONS, ALTERING A ZINC-BINDING HISTIDINE, 2 CONSERVED ALANINES, AND A 5' SPLICE-SITE
Authors: SANTISTEBAN I ARREDONDOVEGA FX KELLY S DEBRE M FISCHER A PERIGNON JL HILMAN B ELDAHR J DREYFUS DH GELFAND EW HOWELL PL HERSHFIELD MS
Citation: I. Santisteban et al., 4 NEW ADENOSINE-DEAMINASE MUTATIONS, ALTERING A ZINC-BINDING HISTIDINE, 2 CONSERVED ALANINES, AND A 5' SPLICE-SITE, Human mutation, 5(3), 1995, pp. 243-250
3 NEW ADENOSINE-DEAMINASE MUTATIONS THAT DEFINE A SPLICING ENHANCER AND CAUSE SEVERE AND PARTIAL PHENOTYPES - IMPLICATIONS FOR EVOLUTION OFA CPG HOTSPOT AND EXPRESSION OF A TRANSDUCED ADA CDNA
Authors: SANTISTEBAN I ARREDONDOVEGA FX KELLY S LOUBSER M MEYDAN N ROIFMAN C HOWELL PL BOWEN T WEINBERG KI SCHROEDER ML HERSHFIELD MS
Citation: I. Santisteban et al., 3 NEW ADENOSINE-DEAMINASE MUTATIONS THAT DEFINE A SPLICING ENHANCER AND CAUSE SEVERE AND PARTIAL PHENOTYPES - IMPLICATIONS FOR EVOLUTION OFA CPG HOTSPOT AND EXPRESSION OF A TRANSDUCED ADA CDNA, Human molecular genetics, 4(11), 1995, pp. 2081-2087
ANALYSIS OF THE RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN ADENOSINE-DEAMINASE (ADA) DEFICIENT PATIENTS UNDERGOING TREATMENT WITH POLYETHYLENE GLYCOL-MODIFIED ADENOSINE-DEAMINASE (PEG-ADA)
Authors: HERSHFIELD MS ARREDONDOVEGA FX SANTISTEBAN I KELLY S MARY A
Citation: Ms. Hershfield et al., ANALYSIS OF THE RELATIONSHIP OF GENOTYPE TO PHENOTYPE IN ADENOSINE-DEAMINASE (ADA) DEFICIENT PATIENTS UNDERGOING TREATMENT WITH POLYETHYLENE GLYCOL-MODIFIED ADENOSINE-DEAMINASE (PEG-ADA), Clinical research, 42(2), 1994, pp. 10000201-10000201
CORRECT SPLICING DESPITE MUTATION OF THE INVARIANT FIRST NUCLEOTIDE OF A 5' SPLICE-SITE - A POSSIBLE BASIS FOR DISPARATE CLINICAL PHENOTYPES IN SIBLINGS WITH ADENOSINE-DEAMINASE DEFICIENCY
Authors: ARREDONDOVEGA FX SANTISTEBAN I KELLY S SCHLOSSMAN CM UMETSU DT HERSHFIELD MS
Citation: Fx. Arredondovega et al., CORRECT SPLICING DESPITE MUTATION OF THE INVARIANT FIRST NUCLEOTIDE OF A 5' SPLICE-SITE - A POSSIBLE BASIS FOR DISPARATE CLINICAL PHENOTYPES IN SIBLINGS WITH ADENOSINE-DEAMINASE DEFICIENCY, American journal of human genetics, 54(5), 1994, pp. 820-830
NOVEL SPLICING, MISSENSE, AND DELETION MUTATIONS IN 7 ADENOSINE-DEAMINASE DEFICIENT PATIENTS WITH LATE DELAYED-ONSET OF COMBINED IMMUNODEFICIENCY DISEASE - CONTRIBUTION OF GENOTYPE TO PHENOTYPE
Authors: SANTISTEBAN I ARREDONDOVEGA FX KELLY S MARY A FISCHER A HUMMELL DS LAWTON A SORENSEN RU STIEHM ER URIBE L WEINBERG K HERSHFIELD MS
Citation: I. Santisteban et al., NOVEL SPLICING, MISSENSE, AND DELETION MUTATIONS IN 7 ADENOSINE-DEAMINASE DEFICIENT PATIENTS WITH LATE DELAYED-ONSET OF COMBINED IMMUNODEFICIENCY DISEASE - CONTRIBUTION OF GENOTYPE TO PHENOTYPE, The Journal of clinical investigation, 92(5), 1993, pp. 2291-2302
COMPOUND HETEROZYGOSITY FOR SPLICING MUTATIONS IN ADENOSINE DEAMINASE-DEFICIENT SIBS WITH DISPARATE CLINICAL PHENOTYPES
Authors: ARREDONDOVEGA FX SANTISTEBAN I KELLY S SCHLOSSMAN C UMETSU D HERSHFIELD MS
Citation: Fx. Arredondovega et al., COMPOUND HETEROZYGOSITY FOR SPLICING MUTATIONS IN ADENOSINE DEAMINASE-DEFICIENT SIBS WITH DISPARATE CLINICAL PHENOTYPES, American journal of human genetics, 53(3), 1993, pp. 886-886
Risultati: 1-11 |