Literature DB >> 11524742

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.

C F Yang1, F J Tsai, S P Lin, C C Lee, J Y Wu.   

Abstract

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Year:  2001        PMID： 11524742     DOI： 10.1002/humu.1187

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Authors:  A Morrone; K L Tylee; M Al-Sayed; A C Brusius-Facchin; A Caciotti; H J Church; M J Coll; K Davidson; M J Fietz; L Gort; M Hegde; F Kubaski; L Lacerda; F Laranjeira; S Leistner-Segal; S Mooney; S Pajares; L Pollard; I Ribeiro; R Y Wang; N Miller
Journal:  Mol Genet Metab       Date:  2014-03-20       Impact factor: 4.797

2.  Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.

Authors:  Huey Yin Leong; Nor Azimah Abdul Azize; Hui Bein Chew; Wee Teik Keng; Meow Keong Thong; Mohd Khairul Nizam Mohd Khalid; Liang Choo Hung; Norzila Mohamed Zainudin; Azura Ramlee; Muzhirah Aisha Md Haniffa; Yusnita Yakob; Lock Hock Ngu
Journal:  Orphanet J Rare Dis       Date:  2019-06-14       Impact factor: 4.123
  2 in total

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