A novel splicing mutation causes an undescribed type of analbuminemia

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1586, Issue 1, 2002, Pages 43-49

  Campagnoli, Monica ^a   Rossi, Antonio ^a   Palmqvist, Lars ^b   Flisberg, Anders ^c   Niklasson, Aimon ^c   Minchotti, Lorenzo ^a   Galliano, Monica ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

Author keywords

Analbuminemia; Human serum albumin; Splicing mutation

Indexed keywords

AMINO ACID SUBSTITUTION; ANALBUMINEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSENSUS SEQUENCE; CONTROLLED STUDY; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HUMAN; IRAQ; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; STRUCTURAL GENE;

ADULT; CONSENSUS SEQUENCE; FEMALE; GENOTYPE; HETERODUPLEX ANALYSIS; HUMANS; INFANT, NEWBORN; IRAQ; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; SERUM ALBUMIN; SWEDEN;

EID: 0037005906     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(01)00084-9     Document Type: Article

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