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Human Genetics

Volumn 105, Issue 5, 1999, Pages 515-517

Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene

(5) Lin, Baochuan a Hiraiwa, Hisayuki a Pan, Chi Jiunn a Nordlie, Robert C b Chou, Janice Yang a

a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (United States)

b UNIVERSITY OF NORTH DAKOTA SCHOOL OF MEDICINE AND HEALTH SCIENCES (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; GENE LOCUS; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANTIPORTERS; DNA MUTATIONAL ANALYSIS; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; KINETICS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER;

EID: 0032733625 PISSN: 03406717 EISSN: None Source Type: Journal
DOI: 10.1007/s004390051140 Document Type: Article

Times cited : (24)

References (7)

1
- 0019122446
- Evidence of the participation of independent translocases for phosphate and glucose-6-phosphale in the microsomal glucose-6-phosphatase system. Interaction of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate
- Arion WJ, Lange AJ, Walls HE, Ballas LM (1980) Evidence of the participation of independent translocases for phosphate and glucose-6-phosphale in the microsomal glucose-6-phosphatase system. Interaction of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate. J Biol Chem 255: 10396-10406
- (1980) J Biol Chem , vol.255 , pp. 10396-10406
- Arion, W.J.¹ Lange, A.J.² Walls, H.E.³ Ballas, L.M.⁴

2
- 0000171986
- Glycogen storage diseases
- Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill Inc, New York
- Chen Y-T, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The molecular and metabolic bases of inherited disease, 7th edn. McGraw-Hill Inc, New York, pp 935-965
- (1995) The Molecular and Metabolic Bases of Inherited Disease, 7th Edn , pp. 935-965
- Chen, Y.-T.¹ Burchell, A.²

3
- 0344517356
- Molecular genetics of type 1 glycogen storage diseases
- Chou JY, Mansfield BC (1999) Molecular genetics of type 1 glycogen storage diseases. Trends Endocrinol Metab 10:104-113
- (1999) Trends Endocrinol Metab , vol.10 , pp. 104-113
- Chou, J.Y.¹ Mansfield, B.C.²

4
- 0033605362
- Inactivation of the glucose-6-phosphate transporter causes glycogen storage disease type 1b
- Hiraiwa H, Pan C-J, Lin B, Moses SW, Chou JY (1999) Inactivation of the glucose-6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem 274:5532-5536
- (1999) J Biol Chem , vol.274 , pp. 5532-5536
- Hiraiwa, H.¹ Pan, C.-J.² Lin, B.³ Moses, S.W.⁴ Chou, J.Y.⁵

5
- 0032915426
- Molecular diagnosis of type 1c glycoeen storage disease
- Janecke AR, Bosshard NU, Mayatepek E, Schulze A, Gitzelman R, Burchell A, Bartram CR, Janssen B (1999) Molecular diagnosis of type 1c glycoeen storage disease. Hum Genet 104:275-277
- (1999) Hum Genet , vol.104 , pp. 275-277
- Janecke, A.R.¹ Bosshard, N.U.² Mayatepek, E.³ Schulze, A.⁴ Gitzelman, R.⁵ Burchell, A.⁶ Bartram, C.R.⁷ Janssen, B.⁸

6
- 0020555678
- Type Ic, a novel glycogenosis
- Nordlie RC, Sukalski KA, Munoz JM, Baldwin JJ (1983) Type Ic, a novel glycogenosis. J Biol Chem 258:9739-9744
- (1983) J Biol Chem , vol.258 , pp. 9739-9744
- Nordlie, R.C.¹ Sukalski, K.A.² Munoz, J.M.³ Baldwin, J.J.⁴

7
- 0032231666
- A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen storage disease type 1b and 1c
- Veiga-da-Cunha M, Gerin I, Chen Y-T, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, Mc Conkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E (1998) A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen storage disease type 1b and 1c. Am J Hum Genet 63:976-983
- (1998) Am J Hum Genet , vol.63 , pp. 976-983
- Veiga-Da-Cunha, M.¹ Gerin, I.² Chen, Y.-T.³ De Barsy, T.⁴ De Lonlay, P.⁵ Dionisi-Vici, C.⁶ Fenske, C.D.⁷ Lee, P.J.⁸ Leonard, J.V.⁹ Maire, I.¹⁰ Mc Conkie-Rosell, A.¹¹ Schweitzer, S.¹² Vikkula, M.¹³ Van Schaftingen, E.¹⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.