SCOPUS 정보 검색 플랫폼

Volumn 58, Issue 4, 1996, Pages 671-681

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance

(4) Christiano, Angela M a McGrath, John A a Tan, Kong Chong b Uitto, Jouni a

a THOMAS JEFFERSON UNIVERSITY (United States)

b NATIONAL SKIN CENTRE (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; COLLAGEN; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GLYCINE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 0029918880 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (106)

References (7)

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- Type VII collagen, anchoring fibrils, and epidermolysis bullosa
- Burgeson RE (1993) Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 101:252-255
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- Burgeson, R.E.¹

2
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3
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4
- 0029915438
- Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype
- in this issue
- Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J (1996) Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype. Am J Hum Genet 58:682-693 (in this issue)
- (1996) Am J Hum Genet , vol.58 , pp. 682-693
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5
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- Vikkula, M.¹ Mariman, E.C.M.² Lui, V.C.H.³ Zhidkova, N.I.⁴ Tiller, G.E.⁵ Goldring, M.B.⁶ Van Beersum, S.E.C.⁷

6
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- Type II collagen mutations in rare and common cartilage diseases
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.