Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island

American Journal of Human Genetics

Volumn 96, Issue 5, 2015, Pages 826-831

  Hadchouel, Alice ^a,b,c,d   Wieland, Thomas ^e   Griese, Matthias ^f   Baruffini, Enrico ^g   Lorenz Depiereux, Bettina ^e   Enaud, Laurent ^h   Graf, Elisabeth ^e   Dubus, Jean Christophe ⁱ   Halioui Louhaichi, Sonia ^j   Coulomb, Aurore ^k   Delacourt, Christophe ^a,b,d   Eckstein, Gertrud ^e   Zarbock, Ralf ^f   Schwarzmayr, Thomas ^e   Cartault, François ^h   Meitinger, Thomas ^e,l   Lodi, Tiziana ^g   De Blic, Jacques ^a,b   Strom, Tim M ^e,l  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSERM   (France)

^d INSERM U955   (France)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g UNIVERSITY OF PARMA   (Italy)

^h UNIVERSITÉ DE LA RÉUNION   (France)

ⁱ TIMONE HOSPITAL   (France)

^j MONGI SLIM HOSPITAL   (Tunisia)

^k ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^l TECHNICAL UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE TRANSFER RNA LIGASE;

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; FAMILY; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; INFANT; LIQUID CULTURE; LUNG ALVEOLUS PROTEINOSIS; PHENOTYPE; PRIORITY JOURNAL; SCREENING; WILD TYPE; ADOLESCENT; CHILD; ENDOPLASMIC RETICULUM; GENETICS; GOLGI COMPLEX; MALE; MISSENSE MUTATION; PATHOLOGY; PRESCHOOL CHILD; PROTEIN SYNTHESIS; YOUNG ADULT;

ADOLESCENT; ALLELES; CHILD; CHILD, PRESCHOOL; ENDOPLASMIC RETICULUM; FEMALE; GOLGI APPARATUS; HUMANS; MALE; METHIONINE-TRNA LIGASE; MUTATION, MISSENSE; PROTEIN BIOSYNTHESIS; PULMONARY ALVEOLAR PROTEINOSIS; YOUNG ADULT;

EID: 84929288411     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.03.010     Document Type: Article

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