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Results: 6
MUTATION SCREENING OF ALL 65 EXONS OF THE FIBRILLIN-1 GENE IN 60 PATIENTS WITH MARFAN-SYNDROME - REPORT OF 12 NOVEL MUTATIONS
Authors: HAYWARD C PORTEOUS ME BROCK DJH
Citation: C. Hayward et al., MUTATION SCREENING OF ALL 65 EXONS OF THE FIBRILLIN-1 GENE IN 60 PATIENTS WITH MARFAN-SYNDROME - REPORT OF 12 NOVEL MUTATIONS, Human mutation, 10(4), 1997, pp. 280-289
6 NOVEL MUTATIONS IN THE ENDOGLIN GENE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1 SUGGEST A DOMINANT-NEGATIVE EFFECT OF RECEPTOR FUNCTION
Authors: MCALLISTER KA BALDWIN MA THUKKANI AK GALLIONE CJ BERG JN PORTEOUS ME GUTTMACHER AE MARCHUK DA
Citation: Ka. Mcallister et al., 6 NOVEL MUTATIONS IN THE ENDOGLIN GENE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1 SUGGEST A DOMINANT-NEGATIVE EFFECT OF RECEPTOR FUNCTION, Human molecular genetics, 4(10), 1995, pp. 1983-1985
6 ADDITIONAL MUTATIONS IN THE ENDOGLIN GENE IN HEREDITARY HEMORRHAGICTELANGIECTASIA TYPE-1 SUGGEST A DOMINANT-NEGATIVE EFFECT OF RECEPTOR FUNCTION
Authors: MCALLISTER KA BALWIN MA THUKKANI AK GALLIONE CJ BERG JM PORTEOUS ME GUTTMACHER AE MARCHUK DA
Citation: Ka. Mcallister et al., 6 ADDITIONAL MUTATIONS IN THE ENDOGLIN GENE IN HEREDITARY HEMORRHAGICTELANGIECTASIA TYPE-1 SUGGEST A DOMINANT-NEGATIVE EFFECT OF RECEPTOR FUNCTION, American journal of human genetics, 57(4), 1995, pp. 1269-1269
ENDOGLIN, A TGF-BETA BINDING-PROTEIN OF ENDOTHELIAL-CELLS, IS THE GENE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1
Authors: MCALLISTER KA GROGG KM JOHNSON DW GALLIONE CJ BALDWIN MA JACKSON CE HELMBOLD EA MARKEL DS MCKINNON WC MURRELL J MCCORMICK MK PERICAKVANCE MA HEUTINK P OOSTRA BA HAITJEMA T WESTERMAN CJJ PORTEOUS ME GUTTMACHER AE LETARTE M MARCHUK DA
Citation: Ka. Mcallister et al., ENDOGLIN, A TGF-BETA BINDING-PROTEIN OF ENDOTHELIAL-CELLS, IS THE GENE FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1, Nature genetics, 8(4), 1994, pp. 345-351
A DISEASE LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 9Q33-34
Authors: MCDONALD MT PAPENBERG KA GHOSH S GLATFELTER AA BIESECKER BB HELMBOLD EA MARKEL DS ZOLOTOR A MCKINNON WC VANDERSTOEP JL JACKSON CE IANNUZZI M COLLINS FS BOEHNKE M PORTEOUS ME GUTTMACHER AE MARCHUK DA
Citation: Mt. Mcdonald et al., A DISEASE LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME 9Q33-34, Nature genetics, 6(2), 1994, pp. 197-204
GENETIC-LINKAGE OF HEREDITARY HEMORRHAGIC TELANGIECTASIA TO MARKERS ON 9Q
Authors: MCDONALD M PAPENBERG K GHOSH S GLATFELTER A BIESECKER B HELMBOLD E ZOLOTOR A JACKSON CE MCKINNON W COLLINS FS PORTEOUS ME GUTTMACHER AE BOEHNKE M MARCHUK DA
Citation: M. Mcdonald et al., GENETIC-LINKAGE OF HEREDITARY HEMORRHAGIC TELANGIECTASIA TO MARKERS ON 9Q, American journal of human genetics, 53(3), 1993, pp. 140-140
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