Detection of a novel splicing mutation causing analbuminemia in a Libyan family

Clinical Biochemistry

Volumn 45, Issue 15, 2012, Pages 1183-1186

  Bibi, Amina ^a   Jouini, Latifa ^a   Sahli, Chaima Abdelhafidh ^a   Hadj Fredj, Sondess ^a   Abidi, Kamel ^a   Gharsallah, Lamia ^a   Mathlouthi, Sondess ^a   Ouali, Faida ^a   Siala, Hajer ^a   Belhaj, Raja ^a   Sammoud, Azza ^a   Messaoud, Taieb ^a  

^a CHILDREN S HOSPITAL   (Tunisia)

Author keywords

Analbuminemia; DHPLC; DNA sequencing; Genetic disorder; Splicing mutation

Indexed keywords

ALBUMIN; HUMAN SERUM ALBUMIN;

ANALBUMINEMIA; ARTICLE; BIRTH WEIGHT; BRADYCARDIA; CASE REPORT; CHILD; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ELECTROPHORESIS; EXON; GENE MUTATION; HUMAN; INFANT; INTRON; LIBYAN ARAB JAMAHIRIYA; MALE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; URINALYSIS;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; HETEROZYGOTE; HUMANS; INFANT; LIBYA; MALE; MOLECULAR SEQUENCE DATA; RNA SPLICE SITES; SERUM ALBUMIN;

EID: 84866268030     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2012.05.007     Document Type: Article

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