Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
about
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific databaseMolecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsDiagnosing mucopolysaccharidosis IVAPaternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi AnemiaMaternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.
P2860
Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@en
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@nl
type
label
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@en
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@nl
prefLabel
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@en
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@nl
P2093
P1476
Morquio A syndrome due to mate ...... elomeric end of chromosome 16.
@en
P2093
M A Donati
O Gabrielli
R Guerrini
P304
P356
10.1016/J.YMGME.2011.11.196
P577
2011-12-02T00:00:00Z