TY  - GEN
AU  - McLean,W H Irwin
AU  - Irvine,Alan D
AU  - Hamill,Kevin J
AU  - Whittock,Neil V
AU  - Coleman-Campbell,Carrie M
AU  - Mellerio,Jemima E
AU  - Ashton,Gabrielle S
AU  - Dopping-Hepenstal,Patricia J H
AU  - Eady,Robin A J
AU  - Jamil,Tanvir
AU  - Phillips,Roderic  J
AU  - Shabbir,S Ghulam
AU  - Haroon,Tahir S
AU  - Khurshid,Khawar
AU  - Moore,Jonathan E
AU  - Page,Brian
AU  - Darling,Jonathan
AU  - Atherton,David J
AU  - Van Steensel,Maurice A M
AU  - Munro,Colin S
AU  - Smith,Frances J D
AU  - McGrath,John A
AU  - Phillips,Rodney J
TI  - An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
SN  - 0964-6906
PY  - 2004///0415
KW  - Chromosomes, Human, Pair 18
KW  - Chronic Disease
KW  - Codon, Terminator
KW  - Consanguinity
KW  - DNA
KW  - genetics
KW  - Epidermolysis Bullosa
KW  - Exons
KW  - Family
KW  - Frameshift Mutation
KW  - France
KW  - ethnology
KW  - Genetic Linkage
KW  - Granulation Tissue
KW  - pathology
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Keratinocytes
KW  - metabolism
KW  - Laminin
KW  - chemistry
KW  - Lod Score
KW  - Pakistan
KW  - Protein Biosynthesis
KW  - Protein Isoforms
KW  - Protein Structure, Tertiary
KW  - Syndrome
KW  - United Kingdom
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddg234
ER  -