Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

Article

Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

American journal of medical genetics - 16 Jun 1998

Cai G, Nakayama M, Hiraki Y, Ozono K

Abstract excerpt

We describe a diastrophic dysplasia (DTDST) gene mutation in a Japanese male fetus with achondrogenesis type 1B and his relatives. Diagnosis in the fetus was based on roentgenographic data and pathological findings of bones and cartilage. Nucleotide sequencing of the DTDST gene demonstrated that...

Topics

Anion Transport Proteins
Carrier Proteins
DNA Mutational Analysis
Humans
Male
Membrane Transport Proteins
Mutation
Osteochondrodysplasias
Point Mutation
Sequence Deletion
Sulfate Transporters
Trinucleotide Repeats

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