A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies

Clinical Genetics

Volumn 88, Issue 6, 2015, Pages 579-583

  Tenorio, J ^a,b,i   Navas, P ^a,c   Barrios, E ^d   Fernandez L ^a,b,i   Nevado, J ^a,b,i   Quezada, C A ^c   Lopez Meseguer M ^a,e,f   Arias, P ^a,b,i   Mena, R ^b,i   Lobo, J L ^g   Alvarez, C ^h   Heath, K ^a,b,i   Escribano Subias P ^a,c   Lapunzina, P ^a,b,i  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^g HOSPITAL TXAGORRITXU   (Spain)

^h HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

ⁱ UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

Autosomal recessive disease; C.3344C>T; EIF2AK4; Gypsies; Pulmonary arterial hypertension; SNP arrays

Indexed keywords

EIF2AK4; ILOPROST; INITIATION FACTOR 2ALPHA; PROSTACYCLIN; SILDENAFIL; TREPROSTINIL; UNCLASSIFIED DRUG; EIF2AK4 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ADULT; ARTICLE; CONSANGUINITY; DROSOPHILA MELANOGASTER; EXON; FAMILY STUDY; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC COUNSELING; HAPLOTYPE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; INTRON; LOW DRUG DOSE; LUNG TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULMONARY CAPILLARY HEMANGIOMATOSIS; PULMONARY HYPERTENSION; PULMONARY VENO-OCCLUSIVE DISEASE; RECURRENCE RISK; ROMANI (PEOPLE); SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; ADOLESCENT; CASE REPORT; DNA SEQUENCE; ETHNOLOGY; FOUNDER EFFECT; GENETIC PREDISPOSITION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PORTUGAL; SPAIN;

ADOLESCENT; ADULT; BASE SEQUENCE; FAMILIAL PRIMARY PULMONARY HYPERTENSION; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PORTUGAL; PROTEIN-SERINE-THREONINE KINASES; ROMA; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 84946491750     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12549     Document Type: Article

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