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

American Journal of Medical Genetics

Volumn 78, Issue 1, 1998, Pages 58-60

  Cai, Guiming ^a   Nakayama, Masahiro ^a   Hiraki, Yuji ^b   Ozono, Keiichi ^a  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA UNIVERSITY   (Japan)

Author keywords

Achondrogenesis; Autosomal recessive inheritance; Chondrocyte; DTDST gene; Dwarfism

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DEVELOPMENT; BONE MALFORMATION; CASE REPORT; FETUS; FETUS GROWTH; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ANION TRANSPORT PROTEINS; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; SEQUENCE DELETION; TRINUCLEOTIDE REPEATS;

RAPHIA FRATER;

EID: 0031810798     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980616)78:1<58::AID-AJMG12>3.0.CO;2-N     Document Type: Article

References (10)

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