Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

P  Hoglund; M  Sormaala; S  Haila; J  Socha; U  Rajaram; W  Scheurlen; M  Sinaasappel; H  de Jonge; C  Holmberg; H  Yoshikawa; J  Kere

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

P Hoglund, M Sormaala, S Haila, J Socha, U Rajaram, W Scheurlen, M Sinaasappel, H de Jonge, C Holmberg, H Yoshikawa, J Kere

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

Original language	English
Journal	Human mutation
Volume	2001
Issue number	18
Pages (from-to)	233-242
Number of pages	10
ISSN	1059-7794
Publication status	Published - 2001
MoE publication type	A1 Journal article-refereed

Fields of Science

congenital chloride diarrhea
CLD
intestinal anion transport
SLC26A3
DRA
genomic rearrangement
GENE ENCODES
SULFATE TRANSPORTER
PENDRED SYNDROME
ADENOMA GENE
CELLS
RECOMBINATION
SEQUENCES
EXCHANGER
SIBLINGS
311 Basic medicine

Cite this

@article{644c451123e040378573525a48fff1a4,

title = "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea",

keywords = "congenital chloride diarrhea, CLD, intestinal anion transport, SLC26A3, DRA, genomic rearrangement, GENE ENCODES, SULFATE TRANSPORTER, PENDRED SYNDROME, ADENOMA GENE, CELLS, RECOMBINATION, SEQUENCES, EXCHANGER, SIBLINGS, 311 Basic medicine",

author = "P Hoglund and M Sormaala and S Haila and J Socha and U Rajaram and W Scheurlen and M Sinaasappel and {de Jonge}, H and C Holmberg and H Yoshikawa and J Kere",

year = "2001",

language = "English",

volume = "2001",

pages = "233--242",

journal = "Human mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "18",

}

TY - JOUR

T1 - Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

AU - Hoglund, P

AU - Sormaala, M

AU - Haila, S

AU - Socha, J

AU - Rajaram, U

AU - Scheurlen, W

AU - Sinaasappel, M

AU - de Jonge, H

AU - Holmberg, C

AU - Yoshikawa, H

AU - Kere, J

PY - 2001

Y1 - 2001

KW - congenital chloride diarrhea

KW - CLD

KW - intestinal anion transport

KW - SLC26A3

KW - DRA

KW - genomic rearrangement

KW - GENE ENCODES

KW - SULFATE TRANSPORTER

KW - PENDRED SYNDROME

KW - ADENOMA GENE

KW - CELLS

KW - RECOMBINATION

KW - SEQUENCES

KW - EXCHANGER

KW - SIBLINGS

KW - 311 Basic medicine

M3 - Article

SN - 1059-7794

VL - 2001

SP - 233

EP - 242

JO - Human mutation

JF - Human mutation

IS - 18

ER -