Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia

Journal of Human Genetics

Volumn 46, Issue 7, 2001, Pages 426-430

  Ishikawa, Y ^a   Tajima, T ^b   Nakae, J ^b   Nagashima, T ^a   Satoh, K ^b   Okuhara, K ^b   Fujieda, K ^b  

^a Kushiro Red Cross Hospital   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Albright hereditary osteodystrophy (AHO); Deletion mutation; Gs gene; Hypothyroidism; Parathyroid hormone (PTH); Pseudohypoparathyroidism Ia (PHP Ia)

Indexed keywords

PARATHYROID HORMONE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; ALBRIGHT SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE GS ALPHA; GENE MUTATION; GENETIC DISORDER; HORMONE RESISTANCE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; PHENOTYPE; PSEUDOHYPOPARATHYROIDISM; STOP CODON; CASE REPORT; EXON; GENETICS; HETEROZYGOTE; INTRON; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY;

ADULT; BASE SEQUENCE; CHILD; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HETEROZYGOTE; HUMANS; INTRONS; JAPAN; MALE; MUTATION; MUTATION, MISSENSE; PSEUDOHYPOPARATHYROIDISM;

EID: 0034743285     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170062     Document Type: Article

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