A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene

Gene

Volumn 497, Issue 1, 2012, Pages 90-92

  Diana, Anna ^a   Tesse, Riccardina ^a   Polizzi, Angela M ^a   Santostasi, Teresa ^a   Manca, Antonio ^a   Leonetti, Giuseppina ^a   Seia, Manuela ^b   Porcaro, Luigi ^b   Cavallo, Luciano ^a  

^a UNIVERSITY OF BARI   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

CFTR; Cystic fibrosis; Homozygosis; Large deletion; Phenotype

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CYSTIC FIBROSIS; DISEASE CARRIER; ENTERITIS; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENOME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LIGATION; MALE; MECONIUM ILEUS; MOTHER; NEWBORN; PATIENT REFERRAL; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SWEAT TEST; SYMPTOM;

BASE SEQUENCE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; SEQUENCE DELETION;

EID: 84857800313     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.01.061     Document Type: Article

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