Comprehensive next-generation sequencing analyses of hypoparathyroidism: Identification of novel GCM2 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 11, 2014, Pages E2421-E2428

  Mitsui, Toshikatsu ^a   Narumi, Satoshi ^a   Inokuchi, Mikako ^a   Nagasaki, Keisuke ^b   Nakazawa, Mie ^c   Sasaki, Goro ^d   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c Tokyo Metropolitan Ohtsuka Hospital   (Japan)

^d TOKYO DENTAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; GCM2 GENE; GEL MOBILITY SHIFT ASSAY; GENE; GENE DOSAGE; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; HEK293 CELL LINE; HUMAN; HUMAN CELL; HYPOPARATHYROIDISM; IN VITRO STUDY; INFANT; JAPANESE (PEOPLE); MALE; MUTANT; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TRANSACTIVATION; WESTERN BLOTTING; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE;

GCM2 PROTEIN, HUMAN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPOPARATHYROIDISM; INFANT; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS;

EID: 84909992138     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2174     Document Type: Article

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