Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2121-2123

  Jones, Gabriela ^a   Robertson, Lisa ^a   Harrison, Rachel ^b   Ridout, Cheryl ^c   Vasudevan, Pradeep ^a  

^a UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^b NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; PROSTAGLANDIN; SILDENAFIL; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN;

ACVRL1 GENE; ADULT; CASE REPORT; CAUCASIAN; DISEASE SEVERITY; DYSPNEA; EXON; FAMILY HISTORY; FEMALE; GENETIC ASSOCIATION; GENETIC SCREENING; HEART CATHETERIZATION; HEART RIGHT ATRIUM PRESSURE; HETEROZYGOSITY; HUMAN; INHERITANCE; LETTER; LUNG ARTERY PRESSURE; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROGENY; PULMONARY ARTERY OCCLUSION PRESSURE; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE; SEQUENCE ANALYSIS; SOMATIC MOSAICISM; YOUNG ADULT; ADOLESCENT; FATALITY; GENETICS; HYPERTENSION, PULMONARY; MUTATION; SEVERITY OF ILLNESS INDEX;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; FATAL OUTCOME; FEMALE; HUMANS; HYPERTENSION, PULMONARY; MOSAICISM; MUTATION; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84904427508     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36568     Document Type: Letter

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