Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: Experience from India

Journal of Cystic Fibrosis

Volumn 7, Issue 2, 2008, Pages 110-115

  Shastri, Shivaram S ^a   Kabra, Madhulika ^a   Kabra, Sushil Kumar ^a   Pandey, Ravindra M ^a   Menon, P S N ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Cystic fibrosis; Genotype phenotype correlation; India; Mutations

Indexed keywords

CHLORIDE; CYTOSINE; ISOLEUCINE; LEUCINE; TRANSMEMBRANE CONDUCTANCE REGULATOR; TYROSINE;

ADOLESCENT; ADULT; AGE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETERODUPLEX ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MEDICAL RESEARCH; PAKISTAN; POPULATION GENETICS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INCIDENCE; INDIA; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PILOT PROJECTS; RETROSPECTIVE STUDIES; SEX DISTRIBUTION;

EID: 40649095907     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2007.06.004     Document Type: Article

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