Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

S M Pasternack; R C Betz; F Brandrup; E F Gade; O Clemmensen; Allan Meldgaard Lund; E Christensen; A Bygum

doi:10.1111/j.1365-2133.2008.08888.x

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

S M Pasternack, R C Betz, F Brandrup, E F Gade, O Clemmensen, Allan Meldgaard Lund, E Christensen, A Bygum

11 Citations (Scopus)

Abstract

Udgivelsesdato: 2009-Mar

Original language	English
Journal	British Journal of Dermatology
Volume	160
Issue number	3
Pages (from-to)	704-6
Number of pages	2
ISSN	0007-0963
DOIs	https://doi.org/10.1111/j.1365-2133.2008.08888.x
Publication status	Published - 2008

Access to Document

10.1111/j.1365-2133.2008.08888.x

Cite this

@article{7bbeabc072d811df928f000ea68e967b,

title = "Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II",

abstract = "Udgivelsesdato: 2009-Mar",

author = "Pasternack, {S M} and Betz, {R C} and F Brandrup and Gade, {E F} and O Clemmensen and Lund, {Allan Meldgaard} and E Christensen and A Bygum",

note = "Keywords: Adult; DNA Mutational Analysis; Eye Diseases, Hereditary; Female; Humans; Keratoderma, Palmoplantar; Mutation; Pedigree; Skin Diseases, Genetic; Tyrosine Transaminase; Tyrosinemias",

year = "2008",

doi = "10.1111/j.1365-2133.2008.08888.x",

language = "English",

volume = "160",

pages = "704--6",

journal = "British Journal of Dermatology",

issn = "0007-0963",

publisher = "Wiley-Blackwell",

number = "3",

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TY - JOUR

T1 - Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

AU - Pasternack, S M

AU - Betz, R C

AU - Brandrup, F

AU - Gade, E F

AU - Clemmensen, O

AU - Lund, Allan Meldgaard

AU - Christensen, E

AU - Bygum, A

N1 - Keywords: Adult; DNA Mutational Analysis; Eye Diseases, Hereditary; Female; Humans; Keratoderma, Palmoplantar; Mutation; Pedigree; Skin Diseases, Genetic; Tyrosine Transaminase; Tyrosinemias

PY - 2008

Y1 - 2008

N2 - Udgivelsesdato: 2009-Mar

AB - Udgivelsesdato: 2009-Mar

U2 - 10.1111/j.1365-2133.2008.08888.x

DO - 10.1111/j.1365-2133.2008.08888.x

M3 - Journal article

C2 - 18945316

SN - 0007-0963

VL - 160

SP - 704

EP - 706

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 3

ER -