When is a deletion not a deletion? When it is converted

被引：230

作者：

Burghes, AHM

机构：

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 01期

关键词：

D O I：

10.1086/513913

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：9 / 15

页数：7

共 49 条

[1]

BECKER PE, 1964, Z MENSCHL VERERB KON, V37, P193

[2] Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I [J].

Brahe, C ;

Clermont, O ;

Zappata, S ;

Tiziano, F ;

Melki, J ;

Neri, G .

HUMAN MOLECULAR GENETICS, 1996, 5 (12) :1971-1976

[3] MAPPING OF 2 NEW MARKERS WITHIN THE SMALLEST INTERVAL HARBORING THE SPINAL MUSCULAR-ATROPHY LOCUS BY FAMILY AND RADIATION HYBRID ANALYSIS [J].

BRAHE, C ;

VELONA, I ;

VANDERSTEEGE, G ;

ZAPPATA, S ;

VANDEVEEN, AY ;

OSINGA, J ;

TOPS, CMJ ;

FODDE, R ;

KHAN, PM ;

BUYS, CHCM ;

NERI, G .

HUMAN GENETICS, 1994, 93 (05) :494-501

[4] GENETIC-MAPPING OF CHRONIC CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY TO CHROMOSOME-5Q11.2-13.3 [J].

BRZUSTOWICZ, LM ;

LEHNER, T ;

CASTILLA, LH ;

PENCHASZADEH, GK ;

WILHELMSEN, KC ;

DANIELS, R ;

DAVIES, KE ;

LEPPERT, M ;

ZITER, F ;

WOOD, D ;

DUBOWITZ, V ;

ZERRES, K ;

HAUSMANOWAPETRUSEWICZ, I ;

OTT, J ;

MUNSAT, TL ;

GILLIAM, TC .

NATURE, 1990, 344 (6266) :540-541

[5] A MULTICOPY DINUCLEOTIDE MARKER THAT MAPS CLOSE TO THE SPINAL MUSCULAR-ATROPHY GENE [J].

BURGHES, AHM ;

INGRAHAM, SE ;

MCLEAN, M ;

THOMPSON, TG ;

MCPHERSON, JD ;

KOTEJARAI, Z ;

CARPTEN, JD ;

DIDONATO, CJ ;

IKEDA, JE ;

SURH, L ;

WIRTH, B ;

SARGENT, CA ;

FERGUSONSMITH, MA ;

FUERST, P ;

MOYZIS, RK ;

GRADY, DL ;

ZERRES, K ;

KORNELUK, R ;

MACKENZIE, A ;

WASMUTH, JJ .

GENOMICS, 1994, 21 (02) :394-402

[6] LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE [J].

BURGHES, AHM ;

INGRAHAM, SE ;

KOTEJARAI, Z ;

ROSENFELD, S ;

HERTA, N ;

NADKARNI, N ;

DIDONATO, CJ ;

CARPTEN, J ;

HURKO, O ;

FLORENCE, J ;

MOXLEY, RT ;

COBBEN, JM ;

MENDELL, JR .

HUMAN GENETICS, 1994, 93 (03) :305-312

[7]

Burglen L, 1997, AM J HUM GENET, V60, P72

[8] Structure and organization of the human survival motor neurone (SMN) gene [J].

Burglen, L ;

Lefebvre, S ;

Clermont, O ;

Burlet, P ;

Viollet, L ;

Cruaud, C ;

Munnich, A ;

Melki, J .

GENOMICS, 1996, 32 (03) :479-482

[9]

Burglen L, 1996, 1 C WORLD MUSCL SOC, pS39

[10] Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease [J].

Burlet, P ;

Burglen, L ;

Clermont, O ;

Lefebvre, S ;

Viollet, L ;

Munnich, A ;

Melki, J .

JOURNAL OF MEDICAL GENETICS, 1996, 33 (04) :281-283

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