Genetic cystic fibrosis transmembrane regulator 4016insT D1152H compound heterozygosity and male infertility: An Italian case report [1]

Clinical Chemistry and Laboratory Medicine

Volumn 45, Issue 7, 2007, Pages 923-924

  Rocchetti, Sandro ^a   Santonocito, Concetta ^a   Concolino, Paola ^a   Torti, Eleonora ^a   Zuppi, Cecilia ^a   Giardina, Bruno ^a   Capoluongo, Ettore ^a,b  

^a CATHOLIC UNIVERSITY   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

Author keywords

4016insT; Atypical cystic fibrosis phenotypes; Cystic fibrosis transmembrane regulator; D1152H

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; CASE REPORT; HETEROZYGOSITY; HUMAN; ITALY; LETTER; MALE; MALE INFERTILITY; PRIORITY JOURNAL;

ADULT; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENE EXPRESSION REGULATION; HETEROZYGOTE; HUMANS; INFERTILITY, MALE; ITALY; MALE;

EID: 34447288446     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2007.144     Document Type: Letter

References (3)

1. Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, et al. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. Ann Hum Genet 2005;69: 15-24.
2. Mussaffi H, Prais D, Mei-Zahav M, Blau H. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006;41:250-4.
3. Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation distribution among US Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6: 392-9.