A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

Journal of Medical Genetics

Volumn 45, Issue 12, 2008, Pages 827-831

  Bonafé, Luisa ^a   Hastbacka J ^b   de la Chapelle, A ^b,c   Campos Xavier, A B ^a   Chiesa, C ^a   Forlino, A ^d   Superti Furga, A ^e   Rossi, A ^d  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c OHIO STATE UNIVERSITY   (United States)

^d UNIVERSITY OF PAVIA   (Italy)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; CYTOSINE; DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER; PROTEIN SLC26A2; SULFATE; THYMINE; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BONE DYSPLASIA; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DE LA CHAPELLE DYSPLASIA; DNA DETERMINATION; FEMALE; FINLAND; GENE EXPRESSION; GENE MUTATION; GENE NUMBER; GENE VECTOR; GENETIC ASSOCIATION; GENETIC VARIABILITY; GEOGRAPHIC ORIGIN; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

CRICETULUS GRISEUS;

ANIMALS; ANION TRANSPORT PROTEINS; CELLS, CULTURED; CHO CELLS; CRICETINAE; CRICETULUS; FEMALE; FINLAND; HUMANS; INFANT, NEWBORN; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POPULATION GROUPS; TRANSFECTION;

EID: 57349129295     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2007.057158     Document Type: Article

References (21)

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