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Volumn 150, Issue 6, 2007, Pages

Chronic Lung Disease and Cystic Fibrosis Phenotype in Prolidase Deficiency: A Newly Recognized Association

Author keywords

[No Author keywords available]

Indexed keywords

PROLINE DIPEPTIDASE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 34249018850     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2007.03.025     Document Type: Article
Times cited : (9)

References (11)
  • 1
    • 0033647213 scopus 로고    scopus 로고
    • Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis
    • Mandel H., Abeling A., Gutman A., Berant M., Scholten E.G., Sheiman C., et al. Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis. Prenat Diagn 20 (2000) 927-929
    • (2000) Prenat Diagn , vol.20 , pp. 927-929
    • Mandel, H.1    Abeling, A.2    Gutman, A.3    Berant, M.4    Scholten, E.G.5    Sheiman, C.6
  • 2
    • 2042450929 scopus 로고    scopus 로고
    • Prolidase deficiency
    • Scriver C.R., et al. (Ed), McGraw-Hill, New York
    • th ed (2001), McGraw-Hill, New York 1839-1853
    • (2001) th ed , pp. 1839-1853
    • Hechtman, P.1
  • 4
    • 0033606777 scopus 로고    scopus 로고
    • National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis
    • National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis. Arch Intern Med 159 (1999) 1529-1539
    • (1999) Arch Intern Med , vol.159 , pp. 1529-1539
  • 7
    • 0025002239 scopus 로고
    • Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus
    • Horn G.T., Richards B., Merrill J.J., and Klinger K.W. Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus. Clin Chem 36 (1990) 1614-1619
    • (1990) Clin Chem , vol.36 , pp. 1614-1619
    • Horn, G.T.1    Richards, B.2    Merrill, J.J.3    Klinger, K.W.4
  • 8
    • 0026551786 scopus 로고
    • Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
    • Dork T., Neumann T., Wulbrand U., Wulf B., Kalin N., Maass G., et al. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 88 (1992) 417-425
    • (1992) Hum Genet , vol.88 , pp. 417-425
    • Dork, T.1    Neumann, T.2    Wulbrand, U.3    Wulf, B.4    Kalin, N.5    Maass, G.6
  • 9
    • 0025133518 scopus 로고
    • Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
    • Kerem B.S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87 (1990) 8447-8451
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 8447-8451
    • Kerem, B.S.1    Zielenski, J.2    Markiewicz, D.3    Bozon, D.4    Gazit, E.5    Yahav, J.6
  • 10
    • 33644852838 scopus 로고    scopus 로고
    • A nonsense mutation of PEPD in four Amish children with prolidase deficiency
    • Wang H., Kurien B.T., Lundgren D., Patel N.C., Kaufman K.M., et al. A nonsense mutation of PEPD in four Amish children with prolidase deficiency. Am J Med Genet 140A (2006) 580-585
    • (2006) Am J Med Genet , vol.140 A , pp. 580-585
    • Wang, H.1    Kurien, B.T.2    Lundgren, D.3    Patel, N.C.4    Kaufman, K.M.5
  • 11
    • 18144413918 scopus 로고    scopus 로고
    • Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis
    • Groman J.D., Karczeski M., Sheridan M., Robinson T., Fallin M., et al. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. J Pediatr 146 (2005) 675-680
    • (2005) J Pediatr , vol.146 , pp. 675-680
    • Groman, J.D.1    Karczeski, M.2    Sheridan, M.3    Robinson, T.4    Fallin, M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.