Allelic heterogeneity in Spanish patients with Sanfilippo disease type B.: Identification of eight new mutations

被引：12

作者：

Coll, MJ ^{[1
]}

Antón, C ^{[1
]}

Chabás, A ^{[1
]}

机构：

[1] Corp Sanitaria, Inst Bioquim Clin, Barcelona 08028, Spain

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2001年 / 24卷 / 01期

关键词：

D O I：

10.1023/A:1005627311402

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：83 / 84

页数：2

共 6 条

[1]

Bunge S, 1999, J MED GENET, V36, P28

[2]

Montfort M, 1998, HUM MUTAT, V12, P274, DOI 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.3.CO

[3]

2-Y

[4] NAGLU mutations underlying Sanfilippo syndrome type B [J].

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[5] Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes [J].

Weber, B ;

Guo, XH ;

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Hopwood, JJ .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (01) :34-44

[6] The molecular basis of Sanfilippo syndrome type B [J].

Zhao, HG ;

Li, HH ;

Bach, G ;

Schmidtchen, A ;

Neufeld, EF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (12) :6101-6105

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