Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

Human Mutation

Volumn 34, Issue 9, 2013, Pages 1279-1288

  Barnes, Aileen M ^a   Duncan, Geraldine ^b,f   Weis, Maryann ^c   Paton, William ^d   Cabral, Wayne A ^a   Mertz, Edward L ^a   Makareeva, Elena ^a   Gambello, Michael J ^g   Lacbawan, Felicitas L ^h   Leikin, Sergey ^a   Fertala, Andrzej ^e   Eyre, David R ^c   Bale, Sherri J ^b,i   Marini, Joan C ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d ALASKA NATIVE MEDICAL CENTER   (United States)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f CANTERBURY HEALTH LABORATORIES   (New Zealand)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h LERNER RESEARCH INSTITUTE   (United States)

ⁱ GENEDX   (United States)

Author keywords

Bruck syndrome; Contractures; Cross linking; FKBP10; FKBP65; Osteogenesis imperfecta

Indexed keywords

COLLAGEN; COLLAGEN FIBRIL; LYSINE;

AMINO ACID ANALYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 17Q; CHROMOSOME DELETION; CHROMOSOME MUTATION; CIS TRANS ISOMERISM; CLINICAL ARTICLE; CLINICAL EXAMINATION; COLLAGEN SYNTHESIS; CONFOCAL MICROSCOPY; CONGENITAL DISORDER; CONTRACTURE; CONTROLLED STUDY; DIFFERENTIAL SCANNING CALORIMETRY; FIBROBLAST; FIRST DEGREE RELATIVE; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYDROXYLATION; IMMUNOFLUORESCENCE MICROSCOPY; IN VITRO STUDY; KUSKOKWIM SYNDROME; LINKAGE ANALYSIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CROSS LINKING; PROTEIN EXPRESSION; PROTEIN PROCESSING; RADIATION HYBRID MAPPING; RAMAN SPECTROMETRY; REAL TIME POLYMERASE CHAIN REACTION; STEADY STATE; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING;

EID: 84881616173     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22362     Document Type: Article

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