메뉴 건너뛰기




Volumn 47, Issue 1, 1997, Pages 38-41

Three mutations in the paired homeodomain of PAX3 that cause waardenburg syndrome type 1

Author keywords

PAX3; Waardenburg syndrome; WS1

Indexed keywords

DNA; DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; PRIMER DNA;

EID: 0031015649     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000154387     Document Type: Article
Times cited : (10)

References (15)
  • 1
    • 76949125703 scopus 로고
    • A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness
    • Waardcnburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness, Am J Hum Genet 1951:3:195-253.
    • (1951) Am J Hum Genet , vol.3 , pp. 195-253
    • Waardcnburg, P.J.1
  • 2
    • 0001252028 scopus 로고
    • Waardenburg's syndrome and heterochromia iri-dum in a deaf school population
    • Partington MW: Waardenburg's syndrome and heterochromia iri-dum in a deaf school population, Canad Med Ass J 1964:90:1008-1017.
    • (1964) Canad Med Ass J , vol.90 , pp. 1008-1017
    • Partington, M.W.1
  • 4
    • 0026584439 scopus 로고
    • An exonic mutation in the lluP2 paired domain gene causes Waardenburg’s syndrome
    • Baldwin CT, Iloth CF, Amos JA, da Silva EO, Milunsky A: An exonic mutation in the lluP2 paired domain gene causes Waardenburg’s syndrome, Nature 1992:355:637-638.
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.T.1    Iloth, C.F.2    Amos, J.A.3    Da Silva, E.O.4    Milunsky, A.5
  • 5
    • 0026602124 scopus 로고
    • Waardenburg’s syndrome patients have mutations in the human homologue of the PAX-3 paired box gene
    • Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T: Waardenburg’s syndrome patients have mutations in the human homologue of the PAX-3 paired box gene, Nature 1992:355: 635-636.
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3    Harris, R.4    Balling, R.5    Gruss, P.6    Strachan, T.7
  • 6
    • 0026893878 scopus 로고
    • Hartono, Soewito, Asher JH Jr: A frameshift mutation in the paired domain of HuP2 is responsible for Waardcnburg syndrome type 1 in an Indonesian family
    • Morell R, Friedman TB, Moeljopa-wiro S, Hartono, Soewito, Asher JH Jr: A frameshift mutation in the paired domain of HuP2 is responsible for Waardcnburg syndrome type 1 in an Indonesian family, Hum Moiec Genet 1992:1:243-247.
    • (1992) Hum Moiec Genet , vol.1 , pp. 243-247
    • Morell, R.1    Friedman, T.B.2    Moeljopa-Wiro, S.3
  • 7
    • 0027185475 scopus 로고
    • A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardcnburg syndrome type I (WSI) family
    • Morell R, Friedman TB, Asher JH Jr.: A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardcnburg syndrome type I (WSI) family, Hum Molcc Genet 1993:2:1487-1488.
    • (1993) Hum Molcc Genet , vol.2 , pp. 1487-1488
    • Morell, R.1    Friedman, T.B.2    Asher, J.H.3
  • 8
    • 0030030303 scopus 로고    scopus 로고
    • Misscnse mutation in the paired domain of PA A 3 causes craniofacial - deafness - hand syndrome
    • Asher JH Jr., Sommer A, Morell R, Friedman TB: Misscnse mutation in the paired domain of PA A 3 causes craniofacial - deafness - hand syndrome, Hum Mutat 1997;7:30-35.
    • (1997) Hum Mutat , vol.7 , pp. 30-35
    • Asher, J.H.1    Sommer, A.2    Morell, R.3    Friedman, T.B.4
  • 10
    • 0028854798 scopus 로고
    • Further elucidation of the genomic structure of PAX 3. And identification of two different point mutations within the PAX3 homeobox that cause Waar-denburg syndrome type I in two families
    • Lalwani AK, Brister JR, Fex J, Grundfast KM, Ploplis B, San Agustín TB, Wilcox ER: Further elucidation of the genomic structure of PAX 3. and identification of two different point mutations within the PAX3 homeobox that cause Waar-denburg syndrome type I in two families, Am J Hum Genet 1995:56: 75-83.
    • (1995) Am J Hum Genet , vol.56 , pp. 75-83
    • Lalwani, A.K.1    Brister, J.R.2    Fex, J.3    Grundfast, K.M.4    Ploplis, B.5    San Agustín, T.B.6    Wilcox, E.R.7
  • 11
    • 0025875226 scopus 로고
    • Gruss P: PAX-3. A novel murine DNA binding protein expressed during early neurogencsis
    • Goulding MD, Chalcpakis G, Deutsch U, Erselius JR, Gruss P: PAX-3. a novel murine DNA binding protein expressed during early neurogencsis, F, MBO J 1991:10: 1135-1147.
    • (1991) F, MBO J , vol.10 , pp. 1135-1147
    • Goulding, M.D.1    Chalcpakis, G.2    Deutsch, U.3    Erselius, J.R.4
  • 12
    • 0028670225 scopus 로고
    • Mammalian PAX genes
    • Campbell A, Anderson W, Jones E, Palo Alto, Annual Reviews
    • Stuart ET, Kioussi C, Gruss P: Mammalian PAX genes: in Campbell A, Anderson W, Jones E (eds): Annual Review of Genetics, Palo Alto, Annual Reviews, 1994. vol 28. pp 219-236.
    • (1994) Annual Review of Genetics , vol.28 , pp. 219-236
    • Stuart, E.T.1    Kioussi, C.2    Gruss, P.3
  • 13
    • 0025964921 scopus 로고
    • Waardcnburg syndrome (WS): The analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q
    • Asher JH Jr., Morell R, Friedman TB: Waardcnburg syndrome (WS): The analysis of a single family with a WSI mutation showing linkage to RFLP markers on human chromosome 2q, Am J Hum Genet 1991:48: 43-52.
    • (1991) Am J Hum Genet , vol.48 , pp. 43-52
    • Asher, J.H.1    Morell, R.2    Friedman, T.B.3
  • 15
    • 0026090005 scopus 로고
    • Germ-line mosaicism in Waardcnburg syndrome
    • Kapur S, Karam S: Germ-line mosaicism in Waardcnburg syndrome, Clin Genet 1991;39:194-198.
    • (1991) Clin Genet , vol.39 , pp. 194-198
    • Kapur, S.1    Karam, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.