Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

M Savino; M Garrubba; L Zelante; F Aucella; Cc Guida; Stefano Angelo Santini

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

M Savino, M Garrubba, L Zelante, F Aucella, Cc Guida, Stefano Angelo Santini

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

Lingua originale	English
pagine (da-a)	474-474
Numero di pagine	1
Rivista	Human Genetics
Volume	127
Stato di pubblicazione	Pubblicato - 2010

Keywords

Exons
Humans
Introns
Mutation, Missense
Porphyria Cutanea Tarda
RNA Splice Sites
RNA Splicing
Uroporphyrinogen Decarboxylase

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title = "Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda",

abstract = "Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda",

keywords = "Exons, Humans, Introns, Mutation, Missense, Porphyria Cutanea Tarda, RNA Splice Sites, RNA Splicing, Uroporphyrinogen Decarboxylase, Exons, Humans, Introns, Mutation, Missense, Porphyria Cutanea Tarda, RNA Splice Sites, RNA Splicing, Uroporphyrinogen Decarboxylase",

author = "M Savino and M Garrubba and L Zelante and F Aucella and Cc Guida and Santini, {Stefano Angelo}",

year = "2010",

language = "English",

volume = "127",

pages = "474--474",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229",

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TY - JOUR

T1 - Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

AU - Savino, M

AU - Garrubba, M

AU - Zelante, L

AU - Aucella, F

AU - Guida, Cc

AU - Santini, Stefano Angelo

PY - 2010

Y1 - 2010

N2 - Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

AB - Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

KW - Exons

KW - Humans

KW - Introns

KW - Mutation, Missense

KW - Porphyria Cutanea Tarda

KW - RNA Splice Sites

KW - RNA Splicing

KW - Uroporphyrinogen Decarboxylase

KW - Exons

KW - Humans

KW - Introns

KW - Mutation, Missense

KW - Porphyria Cutanea Tarda

KW - RNA Splice Sites

KW - RNA Splicing

KW - Uroporphyrinogen Decarboxylase

UR - http://hdl.handle.net/10807/33196

M3 - Article

SN - 0340-6717

VL - 127

SP - 474

EP - 474

JO - Human Genetics

JF - Human Genetics

ER -

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda

Abstract

Keywords

OSS delle Nazioni Unite

Altri file e collegamenti

Fingerprint

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