Cystic fibrosis mutation frequencies in upstate New York

Human Mutation

Volumn 10, Issue 6, 1997, Pages 436-442

  Shrimpton, Antony E ^a   Borowitz, Drucy ^b   Swender, Phillip ^a  

^a SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^b CHILDREN S HOSPITAL OF BUFFALO   (United States)

Author keywords

CF; CFTR; Cystic fibrosis; HA; Mutation frequency; PCR; SSCA

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATION RATE; POPULATION RESEARCH; PRIORITY JOURNAL; UNITED STATES;

ADULT; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; INFANT; MALE; MUTATION; NEW YORK; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

BUBALUS;

EID: 0030778815     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:6<436::AID-HUMU4>3.0.CO;2-B     Document Type: Article

References (6)

1. American Society of Human Genetics (ASHG) statement on cystic fibrosis carrier screening. Am J Hum Genet 51:1443-1444.
2. Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, Zelante L, Mastella G, Cabrini G, Gasparini P, Pignatti PF (1995) Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: Identification of 90% of the mutations. Hum Genet 95(4):397-402.
3. Bozon D, Zielenski J, Rininsland F, Tsui L-C (1994) Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077R Y1092X, 2183AA→G. Hum Mutat 3:330-332.
4. Brock DJH (1995) Heterozygote screening for cystic fibrosis. Eur J Hum Genet 3:2-13.
5. Cheadle JE Goodchild MC, Meredith AL (1993) Direct sequencing of the complete CFTR gene: The molecular characterisation of 99.5% of CF chromosomes in Wales. Human Molec Genet 2:1551-1556.
6. Chillon M, Casals T, Gimnez J, Nunes V, Estivill X ( 1994) Analysis of the CFTR gene in the Spanish population: SSCP screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1G>A and 3667del4). Human Mutat 3:223-230.