Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family with Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Journal of Bone and Mineral Research

Volumn 31, Issue 6, 2016, Pages 1207-1214

  Piret, Sian E ^a   Gorvin, Caroline M ^a   Pagnamenta, Alistair T ^b,c   Howles, Sarah A ^a   Cranston, Treena ^d   Rust, Nigel ^e   Nesbit, M Andrew ^a,f   Glaser, Ben ^g   Taylor, Jenny C ^b,c   Buchs, Andreas E ^h   Hannan, Fadil M ^a,i   Thakker, Rajesh V ^a,c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY OF ULSTER   (United Kingdom)

^g HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^h ASSAF HAROFEH MEDICAL CENTER   (Israel)

ⁱ UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

CALCIUM; G PROTEIN; HYPOPARATHYROIDISM; KERATOCONUS; WHOLE EXOME SEQUENCING

Indexed keywords

CALCIUM; G PROTEIN COUPLED RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA 11 SUBUNIT; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; CALCIUM SENSING RECEPTOR; CASR PROTEIN, HUMAN; GNA11 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT;

ALPHA HELIX; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPOCALCEMIA TYPE 2; CALCIUM CELL LEVEL; CARBOXY TERMINAL SEQUENCE; CONCENTRATION RESPONSE; CONFORMATION; EXOME; EXTRACELLULAR CALCIUM; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; HYPOCALCEMIA; HYPOPARATHYROIDISM; IN VITRO STUDY; IRAN; KERATOCONUS; PROTEIN ANALYSIS; SEGREGATION ANALYSIS; AGED; AMINO ACID SUBSTITUTION; CASE REPORT; CHEMISTRY; FAMILY; GENETICS; HEK293 CELL LINE; HUMAN; HYPERCALCIURIA; MALE; METABOLISM; MISSENSE MUTATION; PROTEIN SECONDARY STRUCTURE; SIGNAL TRANSDUCTION;

AGED; AMINO ACID SUBSTITUTION; FAMILY; GTP-BINDING PROTEIN ALPHA SUBUNITS; HEK293 CELLS; HUMANS; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; IRAN; MALE; MUTATION, MISSENSE; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, CALCIUM-SENSING; SIGNAL TRANSDUCTION;

EID: 84964871252     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2797     Document Type: Article

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