A novel mutation adjacent to the switch III domain of G(sα) in a patient with pseudohypoparathyroidism

Molecular Endocrinology

Volumn 11, Issue 11, 1997, Pages 1718-1727

  Warner, Dennis R ^a,d   Gejman, Pablo V ^b   Collins, Regina M ^c   Weinstein, Lee S ^c  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ARGININE; GUANINE NUCLEOTIDE; GUANOSINE 5' O (3 THIOTRIPHOSPHATE); RNA; SERINE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CONTROLLED STUDY; ERYTHROCYTE MEMBRANE; FEMALE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TEMPERATURE SENSITIVITY;

ANIMALS; CELL LINE; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ERYTHROCYTE MEMBRANE; FEMALE; GENES, SWITCH; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; LYMPHOMA; MICE; MIDDLE AGED; MODELS, MOLECULAR; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; PSEUDOHYPOPARATHYROIDISM; SEQUENCE DELETION; TRANSFECTION; TUMOR CELLS, CULTURED;

EID: 0030769810     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/me.11.11.1718     Document Type: Article

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