Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3

T  Joensuu; R  Hamalainen; B  Yuan; C  Johnson; S  Tegelberg; P  Gasparini; L  Zelante; U  Pirvola; L  Pakarinen; A E  Lehesjoki; A  de la Chapelle; E M  Sankila

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3

T Joensuu, R Hamalainen, B Yuan, C Johnson, S Tegelberg, P Gasparini, L Zelante, U Pirvola, L Pakarinen, A E Lehesjoki, A de la Chapelle, E M Sankila

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	American Journal of Human Genetics
Volume	69
Pages (from-to)	673-684
Number of pages	12
ISSN	0002-9297
Publication status	Published - 2001
MoE publication type	A1 Journal article-refereed

Fields of Science

SYNDROME TYPE-III
MYOSIN VIIA GENE
POSITIONAL CLONING
CHROMOSOME 3Q
HAIR-CELLS
DEAFNESS
PROTEIN
REGION
MAP
1C

Cite this

@article{0f0a6f6b67ad4ea3928374e06a6fd7b5,

title = "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3",

keywords = "SYNDROME TYPE-III, MYOSIN VIIA GENE, POSITIONAL CLONING, CHROMOSOME 3Q, HAIR-CELLS, DEAFNESS, PROTEIN, REGION, MAP, 1C",

author = "T Joensuu and R Hamalainen and B Yuan and C Johnson and S Tegelberg and P Gasparini and L Zelante and U Pirvola and L Pakarinen and Lehesjoki, {A E} and {de la Chapelle}, A and Sankila, {E M}",

year = "2001",

language = "English",

volume = "69",

pages = "673--684",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

TY - JOUR

T1 - Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3

AU - Joensuu, T

AU - Hamalainen, R

AU - Yuan, B

AU - Johnson, C

AU - Tegelberg, S

AU - Gasparini, P

AU - Zelante, L

AU - Pirvola, U

AU - Pakarinen, L

AU - Lehesjoki, A E

AU - de la Chapelle, A

AU - Sankila, E M

PY - 2001

Y1 - 2001

KW - SYNDROME TYPE-III

KW - MYOSIN VIIA GENE

KW - POSITIONAL CLONING

KW - CHROMOSOME 3Q

KW - HAIR-CELLS

KW - DEAFNESS

KW - PROTEIN

KW - REGION

KW - MAP

KW - 1C

M3 - Article

SN - 0002-9297

VL - 69

SP - 673

EP - 684

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -