|
|
Volumn 4, Issue 1, 1996, Pages 39-45
|
|
Gly802Asp substitution in the proa2(I) collagen chain in a family with recurrent osteogenesis imperf ecta due to paternal mosaicism
a
|
|
Author keywords
Aspartic acid; Genetic counselling; Mosaicism Germinal mosaicism; Non lethal osteogenesis imperfecta; Sequencing; Somatic mosaicism
|
|
Indexed keywords
ASPARTIC ACID;
COLLAGEN TYPE 1;
GLYCINE;
COLLAGEN;
PRIMER DNA;
PROCOLLAGEN;
AMINO ACID SUBSTITUTION;
ARTICLE;
CASE REPORT;
FATHER;
GENE STRUCTURE;
HUMAN;
HUMAN EXPERIMENT;
INHERITANCE;
MALE;
MOSAICISM;
OSTEOGENESIS IMPERFECTA;
PRIORITY JOURNAL;
CELL CULTURE;
CHEMISTRY;
CHILD;
FEMALE;
GENETICS;
MOLECULAR GENETICS;
MUTATION;
NUCLEOTIDE SEQUENCE;
POLYACRYLAMIDE GEL ELECTROPHORESIS;
POLYMERASE CHAIN REACTION;
SOUTHERN BLOTTING;
TEMPERATURE;
ASPARTIC ACID;
BASE SEQUENCE;
BLOTTING, SOUTHERN;
CELLS, CULTURED;
CHILD;
COLLAGEN;
DNA PRIMERS;
ELECTROPHORESIS, POLYACRYLAMIDE GEL;
FATHERS;
FEMALE;
GLYCINE;
HUMANS;
MALE;
MOLECULAR SEQUENCE DATA;
MOSAICISM;
MUTATION;
OSTEOGENESIS IMPERFECTA;
POLYMERASE CHAIN REACTION;
PROCOLLAGEN;
TEMPERATURE;
|
|
EID: 0029665663
PISSN: 10184813
EISSN: None
Source Type: Journal
DOI: 10.1159/000472168 Document Type: Article |
|
Times cited : (34)
|
|
References (1)
|
