Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema

American Journal of Human Genetics

Volumn 59, Issue 2, 1996, Pages 308-319

  Verpy, Elisabeth ^a   Biasotto, Michel ^a   Brai, Melchiorre ^b   Misiano, Gabriella ^b   Meo, Tommaso ^a   Tosi, Mario ^a  

^a INSTITUT PASTEUR   (France)

^b Istituto di Patologia Generale   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; DNA FRAGMENT; SERINE PROTEINASE INHIBITOR;

ANGIONEUROTIC EDEMA; ARTICLE; BASE MISPAIRING; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DOMINANT INHERITANCE; EXON; FLUORESCENCE; GENE MUTATION; GENOTYPE; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING;

ANGIONEUROTIC EDEMA; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 11; COMPLEMENT C1 INACTIVATOR PROTEINS; FEMALE; GENETIC DISEASES, INBORN; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PEPTIDE CHAIN TERMINATION, TRANSLATIONAL; POINT MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); REPETITIVE SEQUENCES, NUCLEIC ACID; RNA SPLICING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SERPINS;

EID: 0029816014     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Alsenz J, Bork K, Loos M (1987) Autoantibody-mediated acquired deficiency of C1 inhibitor. N Engl J Med 312:534540
2. Biasotto M, Meo T, Tosi M, Verpy E (1996) FAMA: Fluorescence-assisted mismatch analysis by chemical cleavage. In: Landegren U (ed) Laboratory protocols for mutation detection. Oxford University Press, Oxford, pp 54-60
3. Bock SC, Skriver K, Nielsen E, Thøgersen H-C, Wiman B, Donaldson VH, Eddy RL, et al (1986) Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization. Biochemistry 25:4292-4301
4. Perry DJ, Carrell RW (1996) Molecular genetics of human antithrombin deficiency. Hum Mutat 7:7-22
5. Phelps RS, Chadwick RB, Conrad MP, Kronick MN, Kamb A (1995) Efficient, automatic detection of heterozygous bases during large-scale DNA sequence screening. Biotechniques 19:984-989