Molecular diagnosis of analbuminemia: A novel mutation identified in two Amerindian and two Turkish families

Clinical Chemistry

Volumn 48, Issue 6, 2002, Pages 844-849

  Galliano, Monica ^a   Campagnoli, Monica ^a   Rossi, Antonio ^a   Wirsing von König, Carl Heinz ^a   Lyon, Andrew W ^a   Cefle, Kivanc ^a   Yildiz, Alaattin ^a   Palanduz, Sukru ^a   Ozturk, Sukru ^a   Minchiotti, Lorenzo ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; KAYSERI ALBUMIN; UNCLASSIFIED DRUG;

ADULT; AMERICAN INDIAN; ANALBUMINEMIA; ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HUMAN; INFANT; INTRON; MALE; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TURKEY (REPUBLIC);

EID: 18444400843     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/48.6.844     Document Type: Article

References (10)

1. A nucleotide insertion and frameshift cause analbuminemia in an Italian family
2. Influence of methodology, on the detection and diagnosis of congenital analbuminemia
3. Splicing mutation in human hereditary analbuminemia
4. Analbuminemia: Three cases resulting from different point mutations in the albumin gene
5. A novel splicing mutation causes an undescribed type of analbuminemia
6. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4
7. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
8. Amino acid substitutions in genetic variants of human serum albumin and in sequences inferred from molecular cloning
9. Albumin Naskapi variant in North American Indians and Eti Turks