Late-onset GSDII with novel GAA gene mutation

被引：9

作者：

Angelini, C.

Nascimbeni, A. C.

机构：

[1] Univ Padua, Dept Neurosci, I-35128 Padua, Italy

[2] Venetian Inst Mol Med, Res Fdn, Padua, Italy

来源：

CLINICAL GENETICS | 2007年 / 71卷 / 04期

关键词：

D O I：

10.1111/j.1399-0004.2007.00785.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：374 / 375

页数：2

共 11 条

[1]

Angelini C, 2003, Acta Myol, V22, P90

[2]

Angelini C., 2004, Basic Appl Myol, V14, P71

[3]

BOERKOEL CF, 1995, AM J HUM GENET, V56, P887

[4] Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II [J].

Hesselink, RP ;

Wagenmakers, AJM ;

Drost, MR ;

Van der Vusse, GJ .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2003, 1637 (02) :164-170

[5]

HUIE ML, 1994, HUM MOL GENET, V3, P2231

[6]

Kroos MA, 1997, HUM MUTAT, V9, P17, DOI 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO

[7]

2-M

[8] Juvenile and adult-onset acid maltase deficiency in France -: Genotype-phenotype correlation [J].

Laforêt, P ;

Nicolino, M ;

Eymard, B ;

Puech, JP ;

Caillaud, C ;

Poenaru, L ;

Fardeau, M .

NEUROLOGY, 2000, 55 (08) :1122-1128

[9] Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2 [J].

Martini, C ;

Ciana, G ;

Benettoni, A ;

Katouzian, F ;

Severini, GM ;

Bussani, R ;

Bembi, B .

NEUROLOGY, 2001, 57 (05) :906-908

[10] A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II) [J].

Raben, N ;

Nichols, RC ;

Martiniuk, F ;

Plotz, PH .

HUMAN MOLECULAR GENETICS, 1996, 5 (07) :995-1000

← 1 2 →