Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

American Journal of Human Genetics

Volumn 92, Issue 4, 2013, Pages 605-613

  Jenkinson, Emma M ^a   Rehman, Atteeq U ^b   Walsh, Tom ^c   Clayton Smith, Jill ^a   Lee, Kwanghyuk ^d   Morell, Robert J ^b   Drummond, Meghan C ^b   Khan, Shaheen N ^e   Naeem, Muhammad Asif ^e   Rauf, Bushra ^e   Billington, Neil ^f   Schultz, Julie M ^b   Urquhart, Jill E ^a   Lee, Ming K ^c   Berry, Andrew ^a   Hanley, Neil A ^a   Mehta, Sarju ^g   Cilliers, Deirdre ^h   Clayton, Peter E ^a   Kingston, Helen ^a   Smith, Miriam J ^a   Warner, Thomas T ⁱ   Black, Graeme C ^a   Trump, Dorothy ^a   Davis, Julian R E ^a   Ahmad, Wasim ^j   Leal, Suzanne M ^d   Riazuddin, Sheikh ^e,k   King, Mary Claire ^c   Friedman, Thomas B ^b   Newman, William G ^a   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF THE PUNJAB   (Pakistan)

^f NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^g ADDENBROOKE S HOSPITAL   (United Kingdom)

^h OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j QUAID I AZAM UNIVERSITY   (Pakistan)

^k UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; ENDOPEPTIDASE CLP; ESTROGEN; GONADOTROPIN; HISTIDINE TRANSFER RNA LIGASE; MITOCHONDRIAL ENZYME;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR STRESS SIGNAL; CLINICAL ARTICLE; DELAYED PUBERTY; DNA SEQUENCE; ECHOGRAPHY; EPILEPSY; ESTROGEN THERAPY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENOME; GONADOTROPIN BLOOD LEVEL; HEARING IMPAIRMENT; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; LEARNING DISORDER; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROTEIN HOMEOSTASIS; SHORT STATURE; SPASTICITY; UNFOLDED PROTEIN RESPONSE;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; ATP-DEPENDENT PROTEASES; ENDOPEPTIDASE CLP; EXOME; FEMALE; GENES, RECESSIVE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION; MALE; MITOCHONDRIA; MUTATION; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84875944287     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.02.013     Document Type: Article

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