Identification of novel mutations in patients with Shwachman-Diamond syndrome.

Human mutation

Volumn 25, Issue 4, 2005, Pages 410-

  Nicolis, Elena ^a   Bonizzato, Alberto ^a   Assael, Baroukh M ^a   Cipolli, Marco ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHONDRODYSPLASIA; CHROMOSOME 7; FEMALE; GENE CONVERSION; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; MALE; MUTATION; PANCREAS EXOCRINE INSUFFICIENCY; PRESCHOOL CHILD; RECESSIVE GENE; SYNDROME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; GENE CONVERSION; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; SYNDROME;

EID: 33745504494     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9324     Document Type: Article

References (0)