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Volumn 66, Issue 6, 2000, Pages 2013-2014

High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia [1]

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0033911954     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302928     Document Type: Letter
Times cited : (37)

References (13)
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    • A new approach for identifying non-pathogenic mutations: an analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
    • C Bombieri S Giorgi S Carles R De Cid F Belpinati C Tandoi Pallares-Ruiz A new approach for identifying non-pathogenic mutations: an analysis of the cystic fibrosis transmembrane regulator gene in normal individuals Hum Genet 106 2000 172 178
    • (2000) Hum Genet , vol.106 , pp. 172-178
    • Bombieri, C1    Giorgi, S2    Carles, S3    De Cid, R4    Belpinati, F5    Tandoi, C6    Pallares-Ruiz7
  • 3
    • 0033364316 scopus 로고    scopus 로고
    • Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride
    • C Castellani MG Benetazzo A Bonizzato PF Pignatti G Mastella Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride Am J Hum Genet 64 1999 303 304
    • (1999) Am J Hum Genet , vol.64 , pp. 303-304
    • Castellani, C1    Benetazzo, MG2    Bonizzato, A3    Pignatti, PF4    Mastella, G5
  • 4
    • 0018769118 scopus 로고
    • Dried-blood spot screening for cystic fibrosis in the newborn
    • JR Crossley RB Elliott PA Smith Dried-blood spot screening for cystic fibrosis in the newborn Lancet 1 1979 472 474
    • (1979) Lancet , vol.1 , pp. 472-474
    • Crossley, JR1    Elliott, RB2    Smith, PA3
  • 6
    • 0029928789 scopus 로고    scopus 로고
    • Complexity in a monogenic disease
    • X Estivill Complexity in a monogenic disease Nat Genet 12 1996 348 350
    • (1996) Nat Genet , vol.12 , pp. 348-350
    • Estivill, X1
  • 7
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice junctions
    • P Fanen N Ghanem M Vidaud C Besmond J Martin B Costes F Plassa Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice junctions Genomics 13 1992 770 776
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P1    Ghanem, N2    Vidaud, M3    Besmond, C4    Martin, J5    Costes, B6    Plassa, F7
  • 9
    • 0002245123 scopus 로고
    • The pancreas in cystic fibrosis
    • E Lebenthal A Lerner DDK Rolston The pancreas in cystic fibrosis VLW Go EP DiMagno JD Gardner E Lebenthal HA Reber GA Scheele The pancreas: biology, pathobiology, and disease 2d ed 1993 Raven Press New York 1041 1081
    • (1993) , pp. 1041-1081
    • Lebenthal, E1    Lerner, A2    Rolston, DDK3
  • 10
    • 0016417460 scopus 로고
    • Pathology of cystic fibrosis: review of the literature and comparison with 146 autopsied cases
    • EH Oppenheimer JR Esterly Pathology of cystic fibrosis: review of the literature and comparison with 146 autopsied cases Perspect Pediatr Pathol 2 1975 241 278
    • (1975) Perspect Pediatr Pathol , vol.2 , pp. 241-278
    • Oppenheimer, EH1    Esterly, JR2
  • 11
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel
    • BJ Rosenstein GR Cutting The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel J Pediatr 132 1998 589 595
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, BJ1    Cutting, GR2
  • 13
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    • Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
    • SJ Tucker D Tannahill CF Higgins Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene Hum Mol Genet 1 1992 77 82
    • (1992) Hum Mol Genet , vol.1 , pp. 77-82
    • Tucker, SJ1    Tannahill, D2    Higgins, CF3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.