PCSK5 mutation in a patient with the VACTERL association

BMC Research Notes

Volumn 8, Issue 1, 2015, Pages

  Nakamura, Yukio ^a   Kikugawa, Shingo ^b   Seki, Shoji ^c   Takahata, Masahiko ^d   Iwasaki, Norimasa ^d   Terai, Hidetomi ^e   Matsubara, Mitsuhiro ^f   Fujioka, Fumio ^f   Inagaki, Hidehito ^g   Kobayashi, Tatsuya ^h   Kimura, Tomoatsu ^c   Kurahashi, Hiroki ^g   Kato, Hiroyuki ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b DNA CHIP RESEARCH INC   (Japan)

^c UNIVERSITY OF TOYAMA   (Japan)

^d HOKKAIDO UNIVERSITY   (Japan)

^e OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f Nagano Prefectural Children's Hospital   (Japan)

^g FUJITA HEALTH UNIVERSITY   (Japan)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

PCSK5 mutation; VACTERL association; Whole exome sequencing

Indexed keywords

PCSK5 PROTEIN, HUMAN; PROPROTEIN CONVERTASE 5;

ABNORMALITIES; ANAL CANAL; CASE REPORT; CHILD; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; ESOPHAGUS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION; GENETICS; HEART DEFECTS, CONGENITAL; HEREDITY; HUMAN; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; SPINE; TRACHEA;

ANAL CANAL; CHILD; DNA MUTATIONAL ANALYSIS; ESOPHAGUS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HEREDITY; HUMANS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; PROPROTEIN CONVERTASE 5; SPINE; TRACHEA;

EID: 85018153032     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/s13104-015-1166-0     Document Type: Article

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