Mutations and phenotype in isolated glycerol kinase deficiency

American Journal of Human Genetics

Volumn 58, Issue 6, 1996, Pages 1205-1211

  Walker, A P ^a   Muscatelli, F ^a   Stafford, A N ^a   Chelly, J ^a   Dahl, N ^a   Blomquist, H K ^a   Delanghe, J ^a   Willems, P J ^a   Steinmann, B ^a   Monaco, A P ^a  

^a ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; GLYCEROL; GLYCEROL KINASE; RNA;

ADOLESCENT; ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CHROMOSOME XP; ENZYME DEFICIENCY; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DNA PRIMERS; EXONS; FIBROBLASTS; GLYCEROL KINASE; HUMANS; INTRONS; LEUKOCYTES; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE DELETION; X CHROMOSOME;

RAPHIA FRATER;

EID: 0029931072     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)