Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

American Journal of Medical Genetics, Part A

Volumn 167, Issue 7, 2015, Pages 1501-1509

  Dikoglu, Esra ^a   Alfaiz, Ali ^b,c   Gorna, Maria ^d   Bertola, Deborah ^e   Chae, Jong Hee ^f   Cho, Tae Joon ^f   Derbent, Murat ^g   Alanay, Yasemin ^h   Guran, Tulay ⁱ   Kim, Ok Hwa ^j   Llerenar, Juan C ^k   Yamamoto, Guillerme ^e   Superti Furga, Giulio ^d   Reymond, Alexandre ^b   Xenarios, Ioannis ^c   Stevenson, Brian ^c   Campos Xavier, Belinda ^a   Bonafé, Luisa ^a   Superti Furga, Andrea ^a   Unger, Sheila ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^d ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f Seoul National University Children's Hospital   (South Korea)

^g BASKENT UNIVERSITY   (Turkey)

^h ACIBADEM UNIVERSITY   (Turkey)

ⁱ MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^j Woorisoa Children s Hospital   (South Korea)

^k INSTITUTO OSWALDO CRUZ   (Brazil)

more..

Author keywords

Cataract; CODAS; LONP1; Mitochondrial protease; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MALFORMATION; CATARACT; CATARACT EXTRACTION; CELLULAR PARAMETERS; CEREBRAL OCULAR DENTAL AURICULAR SKELETAL ANOMALY SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; EXOME SEQUENCING; EXTERNAL EAR MALFORMATION; EYE DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC MODEL; HUMAN; IN FRAME DELETION; LONP1 GENE; MALE; MISSENSE MUTATION; MITOCHONDRIAL MATRIX; MUTATIONAL ANALYSIS; MUTATIONAL MODELING; NONSENSE MUTATION; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN METABOLISM; SANGER SEQUENCING; SCHOOL CHILD; SKELETON MALFORMATION; TOOTH MALFORMATION; BIOLOGICAL MODEL; CHONDRODYSPLASIA; CONGENITAL HIP DISLOCATION; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; EXOME; EYE MALFORMATION; GENETICS; GROWTH DISORDER; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; RECESSIVE GENE; SWITZERLAND;

BACTERIA (MICROORGANISMS);

ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; LONP1 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ATP-DEPENDENT PROTEASES; BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; EXOME; EYE ABNORMALITIES; GENES, RECESSIVE; GROWTH DISORDERS; HIP DISLOCATION, CONGENITAL; HUMANS; MITOCHONDRIAL PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; SEQUENCE ANALYSIS, DNA; SWITZERLAND; TOOTH ABNORMALITIES;

EID: 84931373015     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37029     Document Type: Article

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