Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

eLife

Volumn 2015, Issue 4, 2015, Pages 1-22

  Scholl, Ute I ^a,b   Stölting, Gabriel ^c   Nelson Williams, Carol ^a   Vichot, Alfred A ^a   Choi, Murim ^a   Loring, Erin ^a   Prasad, Manju L ^a   Goh, Gerald ^a   Carling, Tobias ^a   Christofer Juhlin, C ^a,d   Quack, Ivo ^b   Rump, Lars C ^b   Thiel, Anne ^b   Lande, Marc ^e   Frazier, Britney G ^f   Rasoulpour, Majid ^g   Bowlin, David L ^h   Sethna, Christine B ⁱ   Trachtman, Howard ^j   Fahlke, Christoph ^c   Lifton, Richard P ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c FORSCHUNGSZENTRUM JÜLICH   (Germany)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^f MADIGAN ARMY MEDICAL CENTER   (United States)

^g Farmington   (United States)

^h Intermed Consultants Ltd   (United States)

ⁱ Children's Medical Center   (United States)

^j NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CALCIUM; CALCIUM CHANNEL; GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; ECHOGRAPHY; EXOME; FEMALE; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN TISSUE; HYPERPLASIA; HYPERTENSION; HYPOKALEMIA; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR CLONING; MORBIDITY; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOLOGY; PARALOGY; POLYMERASE CHAIN REACTION; PRIMARY HYPERALDOSTERONISM; PRINCIPAL COMPONENT ANALYSIS; PROTEIN EXPRESSION;

EID: 84929179079     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.06315.001     Document Type: Article

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