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

eLife

Volumn 4, Issue , 2015, Pages e06315-

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

^a Intermed Consultants Ltd   (United States)

^b Children's Medical Center   (United States)

Author keywords

adrenal gland; CaV3.2; chromosomes; de novo mutation; exome sequencing; genes; human; human biology; incomplete penetrance; medicine; voltage gated calcium channel

Indexed keywords

ALDOSTERONE; CACNA1H PROTEIN, HUMAN; CALCIUM; CALCIUM CHANNEL T TYPE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BIOSYNTHESIS; CALCIUM SIGNALING; CHILD; COMPLICATION; FEMALE; GENE EXPRESSION; GENETICS; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERALDOSTERONISM; HYPERTENSION; INFANT; MALE; MEMBRANE POTENTIAL; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; ONSET AGE; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; RECURRENT DISEASE; SECRETION (PROCESS); SEQUENCE ALIGNMENT; ZONA GLOMERULOSA;

ADOLESCENT; ADULT; AGE OF ONSET; ALDOSTERONE; AMINO ACID SEQUENCE; CALCIUM; CALCIUM CHANNELS, T-TYPE; CALCIUM SIGNALING; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HUMANS; HYPERALDOSTERONISM; HYPERTENSION; INFANT; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RECURRENCE; SEQUENCE ALIGNMENT; ZONA GLOMERULOSA;

EID: 85018215011     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.06315     Document Type: Article

References (0)