Cystic fibrosis transmembrane-conductance regulator mutations among African Americans [3]

American Journal of Human Genetics

Volumn 62, Issue 1, 1998, Pages 195-196

  Friedman, K J ^a   Leigh, M W ^a   Czarnecki, P ^a   Feldman, G L ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PHENYLALANINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; CASE REPORT; CHILD; CYSTIC FIBROSIS; DANDY WALKER SYNDROME; DEHYDRATION; FEMALE; GENE MUTATION; HUMAN; HYPOCHLOREMIA; LETTER; LUNG DISEASE; METABOLIC ALKALOSIS; NEGRO; PRIORITY JOURNAL;

EID: 0031939729     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301681     Document Type: Letter

References (3)

1. Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in African-Americans and Caucasians. J Pediatr (in press).
2. M Macek Jr A Mackova A Hamosh BC Hilman RF Selden G Lucotte KJ Friedman Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75% Am J Hum Genet 60 1997 1122 1127
3. T Meitinger A Golla C Dorner A Deufel C Aulehla-Scholz I Bohm D Reinhardt In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene Hum Mol Genet 2 1993 2173 2174