Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsα gene mutation

American Journal of Medical Genetics

Volumn 77, Issue 4, 1998, Pages 261-267

  Nakamoto, Jon M ^a,d   Sandstrom, Anna T ^b   Brickman, Arnold S ^a   Christenson, Robert A ^c   Van Dop, Cornells ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b KAISER PERMANENTE MEDICAL CENTER   (United States)

^c TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^d MATTEL CHILDREN S HOSPITAL   (United States)

Author keywords

Albright hereditary osteodystrophy; Gs ; Mutation; Pseudohypopara; Thyroidism type Ia

Indexed keywords

ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; CHILD; DISEASE CLASSIFICATION; DISEASE TRANSMISSION; FEMALE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM;

DNA PROBES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ERYTHROCYTE MEMBRANE; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; FRAMESHIFT MUTATION; GENES, RECESSIVE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; ISOTOPE LABELING; MALE; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PSEUDOHYPOPARATHYROIDISM; SEQUENCE ANALYSIS, DNA;

EID: 0032557723     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19980526)77:4<261::aid-ajmg2>3.3.co;2-i     Document Type: Article

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